Variant DetailsVariant: dgv616e212 | Internal ID | 22783543 | | Landmark | | | Location Information | | | Cytoband | 14q11.2 | | Allele length | | Assembly | Allele length | | hg38 | 11685 | | hg19 | 11685 |
| | Variant Type | CNV gain | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | | | Supporting Variants | esv3584182, esv3584193, esv3584171, esv3584160 | | Samples | 401799DP, 401196CR, 400619MP, 401385BB, 400683EC, 401498HH, 401518VK, 400221VM, 401966SR, 400068PW, 400595CP, 401384BP, 401820SD, 401434VN, 401857VG, 400441GS, 401308LD, 401258PC, 401006ES, 401239PR, 400773GS, 400526DR, 400022WA, 400348DK, 401038LN, 400609FJ, 401855RE, 401532LJ, 401746WW, 401406KF, 401620BA, 401377MA, 401050GS, 400763BT, 401979TB, 401785MJ, 401726LW, 400007RG, 401331LJ, 400738WM, 400236DB, 401499JR, 400791GC, 401834CB, 400496BL, 400375KA, 401862AN, 401326LI, 401771OS, 400050RL, 401619BT, 401729AC, 401443JK, 401067BD, 400524NJ, 401711WS, 402074RR, 401307VR, 401700BN, 401182OC, 400430KV, 401898DS, 401496SL, 401016IT, 400712GC, 401661HD, 400128MJ, 401149VA, 400769SL, 4000046CJ, 401143LK, 402073LQ, 401781SL, 400785AK, 401458RT, 400213DB, 401453OL, 401480PG, 401993HM | | 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) | dgv616e212
| | Frequency | | Sample Size | 873 | | Observed Gain | 79 | | Observed Loss | 0 | | Observed Complex | 0 | | Frequency | n/a |
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