Gene Symbol | Chromosome | Start | End | Name | Strand | Variation Type | PMID | Method | Sample Size | Observer Gain | Observed Loss |
---|
D2HGDH | chr2 | 242703552 | 242743943 | esv3893578 | + | loss | 25118596 | SNP array | 3017 | 0 | 3 |
D2HGDH | chr2 | 242704671 | 242707042 | esv23937 | + | gain | 19812545 | Oligo aCGH | 40 | 21 | 0 |
D2HGDH | chr2 | 242704698 | 242707400 | nsv1072091 | + | deletion | 25765185 | Sequencing | 1 | 0 | 1 |
D2HGDH | chr2 | 242704721 | 242706885 | esv3561319 | + | deletion | 23714750 | Sequencing | 767 | 0 | 1 |
D2HGDH | chr2 | 242704761 | 242706987 | esv988977 | + | gain | 20482838 | Oligo aCGH, Sequencing, SNP array | 3 | 1 | 0 |
D2HGDH | chr2 | 242704788 | 242710079 | dgv7395n54 | + | loss | 21841781 | Oligo aCGH, SNP array | 17421 | 0 | 2 |
D2HGDH | chr2 | 242704788 | 242706838 | nsv584978 | + | gain+loss | 21841781 | Oligo aCGH, SNP array | 17421 | 2 | 3 |
D2HGDH | chr2 | 242704788 | 242706118 | nsv584977 | + | loss | 21841781 | Oligo aCGH, SNP array | 17421 | 0 | 1 |
D2HGDH | chr2 | 242704897 | 242706962 | nsv513026 | + | loss | 21212237 | Sequencing, SNP array | 1 | 0 | 1 |
D2HGDH | chr2 | 242704899 | 242706800 | nsv1136320 | + | deletion | 24896259 | Sequencing | 2 | 0 | 1 |
D2HGDH | chr2 | 242705005 | 242706838 | nsv584981 | + | loss | 21841781 | Oligo aCGH, SNP array | 17421 | 0 | 1 |
D2HGDH | chr2 | 242705599 | 242707000 | nsv1143974 | + | deletion | 24896259 | Sequencing | 2 | 0 | 1 |
DHCR | chr1 | 54869815 | 55353370 | nsv546266 | + | gain | 21841781 | Oligo aCGH, SNP array | 17421 | 1 | 0 |
DHCR | chr1 | 54869815 | 55353370 | nsv461561 | + | gain | 19166990 | Oligo aCGH, SNP array | 1557 | 1 | 0 |
DHCR | chr1 | 55046534 | 56201024 | nsv817614 | + | gain | 22305530 | SNP array | 6 | 1 | 0 |
DHCR | chr1 | 55294612 | 55458363 | nsv829915 | + | gain | 17160897 | BAC aCGH | 95 | 1 | 0 |
DHCR | chr1 | 55328782 | 55334833 | esv3577874 | + | loss | 25503493 | SNP array | 873 | 0 | 1 |
DHCR | chr1 | 55334142 | 55334563 | esv2078805 | + | deletion | 18987734 | Sequencing | 1 | 0 | 1 |
DHCR | chr1 | 55334239 | 55334520 | esv2748375 | + | deletion | 23290073 | Sequencing | 96 | 0 | 2 |
DHCR | chr1 | 55334336 | 55334389 | nsv1133854 | + | deletion | 24896259 | Sequencing | 2 | 0 | 2 |
DHCR | chr1 | 55334336 | 55334389 | esv3562192 | + | deletion | 23714750 | Sequencing | 767 | 0 | 1 |
DHCR | chr1 | 55334336 | 55334388 | esv995636 | + | deletion | 20482838 | Oligo aCGH, Sequencing, SNP array | 3 | 0 | 1 |
DHCR | chr1 | 55334341 | 55334442 | esv2748386 | + | deletion | 23290073 | Sequencing | 96 | 0 | 1 |
DHCR | chr1 | 55334343 | 55334396 | esv1764339 | + | deletion | 17803354 | Merging, Oligo aCGH, Sequencing, SNP array | 2 | 0 | 1 |
DHCR | chr1 | 55338609 | 55338747 | esv6509 | + | gain | 19470904 | Sequencing | 1 | 0 | 0 |
DHCR | chr1 | 55341922 | 55343586 | esv3586104 | + | loss | 21293372 | Sequencing | 2504 | 0 | 167 |
DHCR | chr1 | 55342154 | 55343389 | esv2676460 | + | deletion | 23128226 | Merging, Oligo aCGH, PCR, Sequencing, SNP array | 1151 | 0 | 34 |
DHCR | chr1 | 55342223 | 55343377 | esv3586105 | + | loss | 21293372 | Sequencing | 2504 | 0 | 168 |
DHODH | chr16 | 70158781 | 74428506 | nsv7285 | + | inversion | 18451855 | FISH, Multiple complete digestion, Oligo aCGH, Sequencing | 9 | 0 | 0 |
DHODH | chr16 | 71922143 | 72082886 | nsv1055854 | + | loss | 25217958 | Oligo aCGH, SNP array | 29084 | 0 | 1 |
DHODH | chr16 | 71971804 | 72152854 | nsv833273 | + | loss | 17160897 | BAC aCGH | 95 | 0 | 1 |
DHODH | chr16 | 71976343 | 72274347 | nsv428329 | + | gain | 18775914 | BAC aCGH, FISH, PCR | 62 | 7 | 0 |
DHODH | chr16 | 71976343 | 72274347 | esv2758654 | + | gain | 17122850 | BAC aCGH, SNP array | 270 | 20 | 0 |
DHODH | chr16 | 71984721 | 72185844 | esv2714683 | + | deletion | 23290073 | Sequencing | 96 | 0 | 18 |
DHODH | chr16 | 71999743 | 72061832 | esv3582296 | + | loss | 25503493 | SNP array | 873 | 0 | 1 |
DLD | chr7 | 107497099 | 107693680 | nsv831088 | + | loss | 17160897 | BAC aCGH | 95 | 0 | 1 |
DLD | chr7 | 107526737 | 107536280 | esv34192 | + | loss | 18971310 | SNP array | 270 | 0 | 0 |
DLD | chr7 | 107531100 | 107555700 | nsv949927 | + | duplication | 24416366 | Sequencing | 1 | 1 | 0 |
DLD | chr7 | 107542350 | 107542464 | esv3302680 | + | tandem duplication | 20981092 | Digital array, Oligo aCGH, PCR, Sequencing | 185 | 0 | 0 |
DLD | chr7 | 107542376 | 107542488 | esv3374767 | + | duplication | 20981092 | Digital array, Oligo aCGH, PCR, Sequencing | 185 | 1 | 0 |
DLD | chr7 | 107558867 | 107558868 | nsv471995 | + | novel sequence insertion | 20440878 | Oligo aCGH, Sequencing | 9 | 1 | 0 |
DLD | chr7 | 107563664 | 107563718 | nsv365319 | + | deletion | 16902084 | Sequencing | 24 | 0 | 0 |
DUOX2 | chr15 | 44968867 | 45422842 | esv2760029 | + | gain+loss | 17122850 | BAC aCGH, SNP array | 270 | 3 | 2 |
DUOX2 | chr15 | 45114393 | 45413828 | nsv7264 | + | inversion | 18451855 | FISH, Multiple complete digestion, Oligo aCGH, Sequencing | 9 | 0 | 0 |
DUOX2 | chr15 | 45381997 | 45460422 | nsv569312 | + | loss | 21841781 | Oligo aCGH, SNP array | 17421 | 0 | 1 |
DUOX2 | chr15 | 45386952 | 45389379 | nsv9262 | + | gain | 18304495 | Oligo aCGH | 31 | 1 | 0 |
DUOX2 | chr15 | 45390108 | 45393743 | esv3636333 | + | loss | 21293372 | Sequencing | 2504 | 0 | 1 |
ENPP3 | chr6 | 131917171 | 132321099 | nsv7968 | + | loss | 18304495 | Oligo aCGH | 31 | 0 | 4 |
ENPP3 | chr6 | 131953927 | 132138396 | dgv88n68 | + | loss | 17160897 | BAC aCGH | 95 | 0 | 2 |
ENPP1 | chr6 | 132075565 | 132166076 | esv3610819 | + | gain | 21293372 | Sequencing | 2504 | 1 | 0 |