Gene Symbol | Chromosome | Start | End | Name | Strand | Variation Type | PMID | Method | Sample Size | Observer Gain | Observed Loss |
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AGPS | chr2 | 178287629 | 178288058 | nsv954702 | + | deletion | 24416366 | Sequencing | 1 | 0 | 1 |
AGPS | chr2 | 178287636 | 178288061 | esv2840680 | + | deletion | 24192839 | Sequencing | 1 | 0 | 1 |
AGPS | chr2 | 178287636 | 178288061 | esv2665427 | + | deletion | 23128226 | Merging, Oligo aCGH, PCR, Sequencing, SNP array | 1151 | 0 | 869 |
AGPS | chr2 | 178287641 | 178288052 | esv3593461 | + | loss | 21293372 | Sequencing | 2504 | 0 | 217 |
AGPS | chr2 | 178318712 | 178326856 | nsv1129401 | + | inversion | 24896259 | Sequencing | 2 | 0 | 0 |
AGPS | chr2 | 178318729 | 178318730 | esv1528872 | + | insertion | 17803354 | Merging, Oligo aCGH, Sequencing, SNP array | 2 | 1 | 0 |
AGPS | chr2 | 178334071 | 178340072 | nsv507053 | + | sequence alteration | 20534489 | BAC aCGH, Oligo aCGH, Optical mapping, Sequencing | 4 | 0 | 0 |
AGPS | chr2 | 178351465 | 178351466 | esv1690590 | + | insertion | 17803354 | Merging, Oligo aCGH, Sequencing, SNP array | 2 | 1 | 0 |
AGPS | chr2 | 178351787 | 178354176 | esv2660495 | + | deletion | 23128226 | Merging, Oligo aCGH, PCR, Sequencing, SNP array | 1151 | 0 | 1 |
AGPS | chr2 | 178351798 | 178354185 | esv3593464 | + | loss | 21293372 | Sequencing | 2504 | 0 | 4 |
AIFM1 | chrX | 128769658 | 129563826 | nsv528290 | + | gain | 19592680 | SNP array | 2026 | 1 | 0 |
BLVRB | chr19 | 40796739 | 40960865 | nsv833831 | + | loss | 17160897 | BAC aCGH | 95 | 0 | 2 |
BLVRB | chr19 | 40952937 | 40955227 | esv3644348 | + | loss | 21293372 | Sequencing | 2504 | 0 | 1 |
BLVRB | chr19 | 40952946 | 40955193 | esv2658680 | + | deletion | 23128226 | Merging, Oligo aCGH, PCR, Sequencing, SNP array | 1151 | 0 | 1 |
BLVRB | chr19 | 40953547 | 40958935 | esv3644349 | + | loss | 21293372 | Sequencing | 2504 | 0 | 1 |
BLVRB | chr19 | 40968273 | 40971055 | esv3644350 | + | loss | 21293372 | Sequencing | 2504 | 0 | 1 |
COQ6 | chr14 | 73985203 | 74516858 | nsv1053281 | + | gain | 25217958 | Oligo aCGH, SNP array | 29084 | 1 | 0 |
COQ6 | chr14 | 74416835 | 74582506 | dgv1937n100 | + | gain | 25217958 | Oligo aCGH, SNP array | 29084 | 5 | 0 |
COQ6 | chr14 | 74416835 | 74540134 | dgv1936n100 | + | gain | 25217958 | Oligo aCGH, SNP array | 29084 | 3 | 0 |
COQ6 | chr14 | 74418022 | 74462728 | nsv1352 | + | deletion | 18451855 | FISH, Multiple complete digestion, Oligo aCGH, Sequencing | 9 | 0 | 1 |
COQ6 | chr14 | 74420439 | 74483448 | nsv565181 | + | loss | 21841781 | Oligo aCGH, SNP array | 17421 | 0 | 1 |
COQ6 | chr14 | 74420439 | 74483448 | nsv456339 | + | loss | 19166990 | Oligo aCGH, SNP array | 1557 | 0 | 1 |
COQ6 | chr14 | 74420439 | 74462690 | nsv1051583 | + | gain | 25217958 | Oligo aCGH, SNP array | 29084 | 1 | 0 |
COQ6 | chr14 | 74423781 | 74498745 | nsv1046028 | + | loss | 25217958 | Oligo aCGH, SNP array | 29084 | 0 | 1 |
COQ6 | chr14 | 74424937 | 74489735 | nsv524396 | + | gain | 19592680 | SNP array | 2026 | 1 | 0 |
CYB5R3 | chr22 | 42767200 | 43083306 | esv2758839 | + | gain+loss | 17122850 | BAC aCGH, SNP array | 270 | 25 | 1 |
CYB5R3 | chr22 | 42767300 | 43094208 | nsv428391 | + | gain | 18775914 | BAC aCGH, FISH, PCR | 62 | 4 | 0 |
CYB5R3 | chr22 | 42988116 | 43027824 | nsv524028 | + | loss | 19592680 | SNP array | 2026 | 0 | 1 |
CYB5R3 | chr22 | 43023979 | 43027824 | dgv260n21 | + | loss | 19592680 | SNP array | 2026 | 0 | 2 |
CYB5R3 | chr22 | 43030019 | 43031642 | esv2438931 | + | deletion | 19546169 | Sequencing | 1 | 0 | 1 |
CYB5R3 | chr22 | 43044219 | 43044289 | nsv1127922 | + | deletion | 24896259 | Sequencing | 2 | 0 | 1 |
CYBB | chrX | 37654738 | 37658186 | esv3573862 | + | loss | 25503493 | SNP array | 873 | 0 | 2 |
D2HGDH | chr2 | 242516104 | 243014630 | dgv165e55 | + | loss | 17911159 | SNP array | 771 | 0 | 41 |
D2HGDH | chr2 | 242642852 | 243089444 | nsv1002941 | + | gain | 25217958 | Oligo aCGH, SNP array | 29084 | 1 | 0 |
D2HGDH | chr2 | 242662620 | 242943283 | nsv997984 | + | gain | 25217958 | Oligo aCGH, SNP array | 29084 | 1 | 0 |
D2HGDH | chr2 | 242662620 | 242783384 | nsv1006733 | + | gain | 25217958 | Oligo aCGH, SNP array | 29084 | 1 | 0 |
D2HGDH | chr2 | 242668088 | 242706838 | nsv584975 | + | loss | 21841781 | Oligo aCGH, SNP array | 17421 | 0 | 1 |
D2HGDH | chr2 | 242672435 | 242686913 | esv3594839 | + | loss | 21293372 | Sequencing | 2504 | 0 | 1 |
D2HGDH | chr2 | 242672600 | 242718700 | nsv955300 | + | deletion | 24416366 | Sequencing | 1 | 0 | 1 |
D2HGDH | chr2 | 242678895 | 242695258 | nsv10230 | + | loss | 18304495 | Oligo aCGH | 31 | 0 | 1 |
D2HGDH | chr2 | 242680966 | 242681222 | esv2722020 | + | deletion | 23290073 | Sequencing | 96 | 0 | 4 |
D2HGDH | chr2 | 242681032 | 242681106 | esv2722021 | + | deletion | 23290073 | Sequencing | 96 | 0 | 1 |
D2HGDH | chr2 | 242682214 | 242682561 | esv2722022 | + | deletion | 23290073 | Sequencing | 96 | 0 | 9 |
D2HGDH | chr2 | 242682345 | 242682471 | esv2722023 | + | deletion | 23290073 | Sequencing | 96 | 0 | 2 |
D2HGDH | chr2 | 242686874 | 242706731 | nsv584976 | + | loss | 21841781 | Oligo aCGH, SNP array | 17421 | 0 | 1 |
D2HGDH | chr2 | 242694880 | 242695282 | esv2722024 | + | deletion | 23290073 | Sequencing | 96 | 0 | 6 |
D2HGDH | chr2 | 242696785 | 242696900 | esv2722025 | + | deletion | 23290073 | Sequencing | 96 | 0 | 2 |
D2HGDH | chr2 | 242699532 | 242699533 | esv1249069 | + | insertion | 17803354 | Merging, Oligo aCGH, Sequencing, SNP array | 2 | 1 | 0 |
D2HGDH | chr2 | 242702457 | 242713771 | esv1008074 | + | deletion | 20482838 | Oligo aCGH, Sequencing, SNP array | 3 | 0 | 1 |
D2HGDH | chr2 | 242702944 | 242707242 | esv2656823 | + | deletion | 23128226 | Merging, Oligo aCGH, PCR, Sequencing, SNP array | 1151 | 0 | 115 |