Variant DetailsVariant: dgv1041e212 | Internal ID | 20149497 | | Landmark | | | Location Information | | | Cytoband | 19q13.12 | | Allele length | | Assembly | Allele length | | hg38 | 17000 | | hg19 | 17000 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | | | Supporting Variants | esv3583370, esv3583366, esv3583367, esv3583368, esv3583369 | | Samples | 400105BB, 400843FL, 400313DF, 401246HH, 400677HD, 400524NJ, 401075MN, 400788PV, 401184MM, 401771OS, 401376RD, 401931JL, 400598DA, 401949MN, 400943DV, 401259LS, 401013GJ, 400103BN, 400852WJ, 401717LP, 401700BN, 400582WS, 401875FG, 400206SC, 400221VM, 401576WC, 400624RJ, 401932GN, 401510DG, 400338SR, 401153HS, 400432VA, 401087SF, 401852SK, 401926MR, 400509CJ | | Known Genes | ZFP14 | | 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) | dgv1041e212
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 36 | | Observed Complex | 0 | | Frequency | n/a |
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