Variant DetailsVariant: dgv1187e212 | Internal ID | 22784114 | | Landmark | | | Location Information | | | Cytoband | 2q31.1 | | Allele length | | Assembly | Allele length | | hg38 | 3334 | | hg19 | 3334 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | | | Supporting Variants | esv3584173, esv3584172, esv3584174 | | Samples | 401799DP, 401474CE, 401706BJ, 400336BG, 401261HD, 400140WM, 400970VE, 401972BA, 401518VK, 401321CE, 400068PW, 400834SS, 400625FT, 401721CP, 401096SL, 400077EB, 400199SA, 400523GB, 401990PR, 401258PC, 400298ME, 400718PS, 402064DC, 400631SJ, 401935TM, 401908YM, 400148MS, 400307HW, 401532LJ, 401801LA, 401791FG, 400507VD, 401873BK, 401175FA, 400007RG, 401655DC, 401027KW, 400791GC, 400040CN, 400977SC, 402052ZA, 401454CD, 400381CA, 401586RS, 401513KC, 401084BD, 400686BM, 401619BT, 400681MC, 400006DK, 400387HE, 401067BD, 401875FG, 400362TV, 400014SL, 400721DJ, 400788PV, 400378HL, 400177CG, 400030WD, 401334DH, 400201PK, 401361GG, 400837HN, 400671PP, 400542EG, 400483DP, 400246MG, 401277RA, 401025SM, 400759FV, 400501SJ, 401413RG, 401567BD, 401166WJ, 401143LK, 401100SJ, 400271SR, 401681MS, 401250WD, 400581VJ, 400300SD, 400021ME, 400923OA | | Known Genes | | | 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) | dgv1187e212
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 84 | | Observed Complex | 0 | | Frequency | n/a |
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