Variant DetailsVariant: dgv2068e212 | Internal ID | 22784995 | | Landmark | | | Location Information | | | Cytoband | 8p11.22 | | Allele length | | Assembly | Allele length | | hg38 | 141669 | | hg19 | 141669 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | | | Supporting Variants | esv3572683, esv3572688, esv3572682, esv3572690, esv3572685, esv3572684, esv3572686 | | Samples | 400243CK, 400923OA, 400234CA, 401490TL, 400269DA, 401362ME, 401474CE, 400287BP, 401459HF, 400247CL, 401749DJ, 401292ER, 400880TM, 400569WC, 400336BG, 401769CR, 400313DF, 401673DM, 400512LR, 401742KB, 401518VK, 401321CE, 400866RR, 400141CC, 400068PW, 400595CP, 401457WK, 401249TP, 401096SL, 401093VL, 400934LA, 400643LD, 400509CJ, 401536BD, 401402EN, 400225CJ, 401030GI, 400441GS, 401253MC, 400523GB, 401634CH, 401173AI, 401906DT, 400438DB, 402019MC, 400669LD, 401297KC, 401842BJ, 400343BD, 400134WK, 400061DE, 401690HA, 400231LP, 401401BA, 400583HS, 400749VW, 400033KC, 400356MC, 400338SR, 400206SC, 401303FM, 401198TI, 401818PC, 401532LJ, 400344DR, 400341GL, 402056KD, 400107MJ, 401238QR, 400270BD, 401739BJ, 400060MC, 400843FL, 401764JJ, 400793BR, 401873BK, 401448BJ, 401977ES, 401732HW, 400763BT, 401505WI, 401726LW, 400974PS, 401714BM, 401691HA, 400870KC, 401939GD, 400791GC, 400110MD, 400070PC, 401540NA, 400955BE, 401913GT, 400783MJ, 400207HN, 401230NL, 401717LP, 401119DK, 401454CD, 400994HJ, 400076LC, 400123WN, 401762SD, 4000657TM, 402054BD, 401812HG, 401981GF, 400978JG, 400371GA, 400278PD, 400248JO, 400258BC, 401940SJ, 401200BD, 400721DJ, 400450FG, 401922MW, 401391PJ, 401595BL, 400458LS, 401428LD, 400103BN, 400471YS, 400246MG, 400295PS, 401025SM, 400069CN, 401552BK, 400128MJ, 402048WB, 400586RD, 400312CR, 401861GG, 401567BD, 402008MC, 400719TM, 400271SR, 400849SH, 401829FJ, 400525MR, 400106PC, 400130HA, 400315DA, 401250WD, 400835FD, 401177SL, 400508RD, 400266BA, 400213DB, 400291VJ, 401576WC, 402024BB | | Known Genes | ADAM3A, ADAM5 | | 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) | dgv2068e212
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 152 | | Observed Complex | 0 | | Frequency | n/a |
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