Variant DetailsVariant: dgv2317e212 Internal ID | 20150773 | Landmark | | Location Information | | Cytoband | Xq21.1 | Allele length | Assembly | Allele length | hg38 | 1421 | hg19 | 1421 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | esv3574100, esv3574096, esv3574098 | Samples | 400534ME, 400455SJ, 401698SB, 400583HS, 401104DM, 400800MW, 400354TJ, 400999HR, 401616WP, 400732MA, 401266HM | Known Genes | ATRX | 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) | dgv2317e212
| Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 11 | Observed Complex | 0 | Frequency | n/a |
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