Variant DetailsVariant: dgv1242e212 Internal ID | 20149698 | Landmark | | Location Information | | Cytoband | 20q11.23 | Allele length | Assembly | Allele length | hg38 | 18728 | hg19 | 18728 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | esv3567960, esv3567962 | Samples | 401459HF, 400114GR, 401385BB, 400377WJ, 401498HH, 400866RR, 401966SR, 401368WR, 401550SP, 401198TI, 401619BT, 400639RP, 401702GB, 401940SJ, 400474GF, 401700BN, 400103BN, 400863SS, 401254AE, 400494ML, 401497PR | Known Genes | ACTR5 | 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) | dgv1242e212
| Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 21 | Observed Complex | 0 | Frequency | n/a |
|
|