Variant DetailsVariant: dgv914e212 Internal ID | 20149370 | Landmark | | Location Information | | Cytoband | 17q12 | Allele length | Assembly | Allele length | hg38 | 321606 | hg19 | 118064 |
| Variant Type | CNV gain | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | esv3572909, esv3573009, esv3572975, esv3572997, esv3572920, esv3572831, esv3572864, esv3572986, esv3572820 | Samples | 401674DD, 400298ME, 400631SJ, 400186WC, 400955BE, 401913GT, 401630MK, 400978JG, 401496SL, 400845ML, 401847RK, 401135CS, 401829FJ, 400152MR | Known Genes | LOC440434, TBC1D3, TBC1D3C, TBC1D3F, TBC1D3H | 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) | dgv914e212
| Frequency | Sample Size | 873 | Observed Gain | 14 | Observed Loss | 0 | Observed Complex | 0 | Frequency | n/a |
|
|