Variant DetailsVariant: dgv2327e212 Internal ID | 20150783 | Landmark | | Location Information | | Cytoband | Xq21.2 | Allele length | Assembly | Allele length | hg38 | 7085 | hg19 | 7085 |
| Variant Type | CNV gain | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | esv3576959, esv3576962, esv3576966 | Samples | 400701MM, 401005BL, 400068PW, 401104DM, 400763BT, 401591BE, 401717LP, 400211BJ, 400014SL, 401829FJ | 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) | dgv2327e212
| Frequency | Sample Size | 873 | Observed Gain | 10 | Observed Loss | 0 | Observed Complex | 0 | Frequency | n/a |
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