Variant DetailsVariant: esv3568735 | Internal ID | 18350247 | | Landmark | | | Location Information | | | Cytoband | 3p21.31 | | Allele length | | Assembly | Allele length | | hg38 | 14858 | | hg19 | 14858 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | dgv1374e212 | | Supporting Variants | essv9766865, essv9766853, essv9766866, essv9766843, essv9766881, essv9766864, essv9766858, essv9766851, essv9766873, essv9766847, essv9766859, essv9766852, essv9766854, essv9766850, essv9766880, essv9766877, essv9766855, essv9766876, essv9766871, essv9766878, essv9766842, essv9766862, essv9766874, essv9766863, essv9766849, essv9766846, essv9766860, essv9766875, essv9766848, essv9766872, essv9766840, essv9766844, essv9766869, essv9766857, essv9766841, essv9766839, essv9766870, essv9766861 | | Samples | 401806DL, 401465TB, 401986LC, 401380OL, 400683EC, 401674DD, 400523GB, 401258PC, 400827MM, 402062KR, 401842BJ, 400882DD, 400600DP, 401538NS, 401252AE, 400333CC, 401331LJ, 401714BM, 401939GD, 401586RS, 401825TH, 401443JK, 400362TV, 401307VR, 401514BA, 400430KV, 401391PJ, 400881GS, 401958MF, 401135CS, 400079AP, 400209BS, 400164SS, 401510DG, 400942HR, 400923OA, 401490TL, 400982BS | | Known Genes | SCAP | | 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) | esv3568735
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 38 | | Observed Complex | 0 | | Frequency | n/a |
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