Variant DetailsVariant: esv3574123 | Internal ID | 18702321 | | Landmark | | | Location Information | | | Cytoband | Xq21.1 | | Allele length | | Assembly | Allele length | | hg38 | 17611 | | hg19 | 17611 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | | | Supporting Variants | essv9826664, essv9826647, essv9826655, essv9826650, essv9826668, essv9826631, essv9826629, essv9826646, essv9826659, essv9826654, essv9826636, essv9826630, essv9826661, essv9826638, essv9826649, essv9826648, essv9826658, essv9826628, essv9826639, essv9826642, essv9826663, essv9826660, essv9826666, essv9826633, essv9826653, essv9826669, essv9826640, essv9826635, essv9826652, essv9826634, essv9826637, essv9826651, essv9826665, essv9826662, essv9826657, essv9826641, essv9826627 | | Samples | 401110GJ, 401077VC, 400512LR, 401321CE, 400077EB, 400277LM, 400545EW, 400486LS, 401906DT, 400438DB, 400292LP, 401104DM, 400032RC, 401532LJ, 400729HC, 401726LW, 401175FA, 400533BB, 400070PC, 401125LM, 401594MP, 401318AV, 400043HC, 401326LI, 400258BC, 401259LS, 401677MM, 400732MA, 400722OM, 400053LE, 401016IT, 402051AF, 400295PS, 401143LK, 400792RE, 400173KP, 400269DA | | 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) | esv3574123
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 37 | | Observed Complex | 0 | | Frequency | n/a |
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