Variant DetailsVariant: esv3571125 | Internal ID | 18699323 | | Landmark | | | Location Information | | | Cytoband | 6q12 | | Allele length | | Assembly | Allele length | | hg38 | 6486 | | hg19 | 6486 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | dgv1786e212 | | Supporting Variants | essv9779753, essv9779758, essv9779757, essv9779702, essv9779701, essv9779727, essv9779754, essv9779728, essv9779713, essv9779717, essv9779695, essv9779738, essv9779714, essv9779729, essv9779752, essv9779745, essv9779748, essv9779723, essv9779749, essv9779705, essv9779707, essv9779732, essv9779761, essv9779743, essv9779726, essv9779750, essv9779718, essv9779720, essv9779721, essv9779716, essv9779712, essv9779724, essv9779699, essv9779715, essv9779740, essv9779737, essv9779730, essv9779706, essv9779709, essv9779742, essv9779741, essv9779696, essv9779697, essv9779762, essv9779760, essv9779708, essv9779751, essv9779739, essv9779698, essv9779731, essv9779736, essv9779719, essv9779759, essv9779734, essv9779710, essv9779746, essv9779735, essv9779704, essv9779703, essv9779725, essv9779763, essv9779747 | | Samples | 401366WD, 400364SS, 400439IM, 401489CB, 400105BB, 401986LC, 400554WB, 401385BB, 401956DQ, 400313DF, 400852WJ, 400897MD, 400191MP, 400360SM, 401792KR, 400600DP, 400203NA, 400127MD, 400032RC, 401818PC, 400729HC, 401406KF, 401238QR, 400843FL, 400411TG, 400383HL, 400515ZG, 401655DC, 400110MD, 401519SA, 400543CK, 401326LI, 401506LK, 400724CD, 401346FJ, 400686BM, 400050RL, 400547BS, 401414CR, 401493HC, 400603CJ, 401711WS, 400422PN, 400795CL, 400454RE, 401025SM, 400235MP, 401661HD, 401314MK, 402073LQ, 401763SG, 400525MR, 401105WS, 400785AK, 401458RT, 400213DB, 401153HS, 401576WC, 401517PR, 401066MM, 400532MH, 401068SD | | Known Genes | EYS | | Method | SNP array | | Analysis | We used four separate algorithms to detect CNVs; Affymetrix Chromosome Analysis Suite (ChAS), iPattern, Nexus and Partek. Our primary analysis was performed based on ChAS CNV calls, which were then supported using the remaining three algorithms to construct a confidence set of CNVs. For all algorithms, we have used 8 probes and >1kb as a base line cutoff for CNV detection. | | Platform | Affymetrix CytoScan HD 2.7M array | | Comments | | | Reference | Uddin_et_al_2014 | | Pubmed ID | 25503493 | | Accession Number(s) | esv3571125
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 62 | | Observed Complex | 0 | | Frequency | n/a |
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