Variant DetailsVariant: esv3574981 Internal ID | 18356493 | Landmark | | Location Information | | Cytoband | Xq28 | Allele length | Assembly | Allele length | hg38 | 2098 | hg19 | 2098 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | essv9833768, essv9833772, essv9833757, essv9833750, essv9833769, essv9833759, essv9833764, essv9833762, essv9833771, essv9833754, essv9833751, essv9833770, essv9833761, essv9833760, essv9833758, essv9833753, essv9833765, essv9833752, essv9833763, essv9833766 | Samples | 401457WK, 400453LN, 400658BW, 402064DC, 400631SJ, 400127MD, 401566DD, 401303FM, 401994BD, 400344DR, 400929MM, 401691HA, 400110MD, 401694SG, 401506LK, 401067BD, 401847RK, 401858TP, 401554VN, 400508RD | Known Genes | CD99L2 | 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) | esv3574981
| Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 20 | Observed Complex | 0 | Frequency | n/a |
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