Variant DetailsVariant: esv3573456 | Internal ID | 18701654 | | Landmark | | | Location Information | | | Cytoband | Xp22.32 | | Allele length | | Assembly | Allele length | | hg38 | 7983 | | hg19 | 7983 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | dgv2195e212 | | Supporting Variants | essv9822858, essv9822869, essv9822865, essv9822880, essv9822871, essv9822864, essv9822859, essv9822856, essv9822862, essv9822850, essv9822876, essv9822885, essv9822872, essv9822860, essv9822877, essv9822861, essv9822854, essv9822886, essv9822874, essv9822870, essv9822851, essv9822887, essv9822884, essv9822863, essv9822853, essv9822882, essv9822881, essv9822890, essv9822879, essv9822852, essv9822883, essv9822857, essv9822888, essv9822868, essv9822873, essv9822891, essv9822875 | | Samples | 401021SC, 400204SC, 400866RR, 400655WB, 400595CP, 401931JL, 401856GC, 400545EW, 401253MC, 401281BP, 401695BT, 400121PL, 402056KD, 400270BD, 400442FE, 401726LW, 400352CA, 401804FG, 400375KA, 401618HR, 401879HJ, 401619BT, 401311GL, 400846MC, 401391PJ, 401535RJ, 401898DS, 400770MA, 400722OM, 401277RA, 400069CN, 400792RE, 400525MR, 400106PC, 401607LL, 400261RN, 400164SS | | 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) | esv3573456
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 37 | | Observed Complex | 0 | | Frequency | n/a |
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