Variant DetailsVariant: esv3568251 Internal ID | 18349763 | Landmark | | Location Information | | Cytoband | 22q11.21 | Allele length | Assembly | Allele length | hg38 | 2161 | hg19 | 2161 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | dgv1286e212 | Supporting Variants | essv9820902, essv9820896, essv9820900, essv9820918, essv9820893, essv9820922, essv9820905, essv9820901, essv9820917, essv9820914, essv9820919, essv9820904, essv9820903, essv9820894, essv9820920, essv9820911, essv9820897, essv9820925, essv9820915, essv9820895, essv9820923, essv9820908, essv9820892, essv9820916, essv9820907, essv9820912, essv9820909, essv9820898, essv9820924, essv9820913, essv9820906 | Samples | 400268SY, 401079HJ, 400852WJ, 401602PR, 400620MT, 400347VJ, 401190WC, 401281BP, 402028BD, 400482MD, 401695BT, 401104DM, 402061PI, 401977ES, 401437MJ, 401251WN, 401623SN, 401119DK, 401730MS, 401478RD, 401311GL, 401067BD, 400371GA, 400624RJ, 400158FB, 400712GC, 401025SM, 4000046CJ, 402008MC, 400704LC, 401180GR | Known Genes | DGCR2 | 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) | esv3568251
| Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 31 | Observed Complex | 0 | Frequency | n/a |
|
|