Variant DetailsVariant: esv3574143 | Internal ID | 18355655 | | Landmark | | | Location Information | | | Cytoband | Xq21.2 | | Allele length | | Assembly | Allele length | | hg38 | 2708 | | hg19 | 2708 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | dgv2328e212 | | Supporting Variants | essv9827069, essv9827084, essv9827265, essv9827102, essv9827002, essv9827010, essv9827167, essv9826931, essv9826892, essv9826887, essv9827057, essv9826918, essv9827240, essv9827189, essv9827014, essv9826969, essv9826921, essv9827041, essv9826949, essv9826916, essv9827194, essv9826965, essv9827131, essv9826935, essv9827052, essv9827083, essv9827146, essv9827031, essv9827196, essv9826925, essv9827253, essv9827070, essv9826907, essv9827183, essv9826891, essv9826970, essv9827185, essv9827003 | | Samples | 400063BR, 400569WC, 401986LC, 400132HN, 40031BA, 400834SS, 401603HH, 400934LA, 401536BD, 401006ES, 400588BE, 400600DP, 400231LP, 401550SP, 400385LJ, 401620BA, 400413FJ, 401397WN, 400702PA, 400043HC, 4000657TM, 401892MJ, 400248JO, 401011PJ, 400571WV, 400378HL, 400168HC, 402060PD, 400863SS, 400930MK, 401215MJ, 400778SR, 400108BJ, 401284NA, 400150SS, 401576WC, 400138LA, 401068SD | | Known Genes | CHM | | 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) | esv3574143
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 38 | | Observed Complex | 0 | | Frequency | n/a |
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