Variant DetailsVariant: dgv62e212 Internal ID | 20148518 | Landmark | | Location Information | | Cytoband | 1p22.2 | Allele length | Assembly | Allele length | hg38 | 2858 | hg19 | 2858 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | esv3578006, esv3578007 | Samples | 400063BR, 400802DP, 400272AE, 401931JL, 401022ML, 401238QR, 401437MJ, 400738WM, 401950MD, 400888MS, 401922MW, 400624RJ, 400103BN, 401607LL, 400266BA, 401254AE | Known Genes | GBP3 | 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) | dgv62e212
| Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 16 | Observed Complex | 0 | Frequency | n/a |
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