Variant DetailsVariant: esv3568270Internal ID | 18349782 | Landmark | | Location Information | | Cytoband | 22q11.21 | Allele length | Assembly | Allele length | hg38 | 2882 | hg19 | 2882 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | essv9821154, essv9821169, essv9821164, essv9821163, essv9821168, essv9821162, essv9821165, essv9821161, essv9821160, essv9821157, essv9821167, essv9821153, essv9821156, essv9821158, essv9821159 | Samples | 400649PS, 400926LJ, 401489CB, 400641WJ, 400893ZE, 400606HW, 401687LR, 400186WC, 401873BK, 400082SD, 400686BM, 400571WV, 401894PD, 400586RD, 400255CD | Known Genes | COMT | 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) | esv3568270
| Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 15 | Observed Complex | 0 | Frequency | n/a |
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