Variant DetailsVariant: esv3574092 Internal ID | 18355604 | Landmark | | Location Information | | Cytoband | Xq21.1 | Allele length | Assembly | Allele length | hg38 | 2987 | hg19 | 2987 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | essv9826491, essv9826500, essv9826497, essv9826494, essv9826496, essv9826492, essv9826498, essv9826495 | Samples | 400545EW, 401006ES, 401550SP, 401050GS, 400050RL, 400888MS, 401259LS, 400971MK | 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) | esv3574092
| Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 8 | Observed Complex | 0 | Frequency | n/a |
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