Variant DetailsVariant: dgv1490e212![](http://dgv.tcag.ca/gb2/gbrowse_img/dgv2_hg38/?name=chr4:68494758..68620109;width=800;overview=1) Internal ID | 20149946 | Landmark | | Location Information | | Cytoband | 4q13.2 | Allele length | Assembly | Allele length | hg38 | 125352 | hg19 | 125352 |
| Variant Type | CNV gain | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | esv3575740, esv3575733, esv3575734, esv3575721, esv3575732, esv3575737, esv3575715, esv3575736, esv3575725, esv3575726 | Samples | 400316SL, 401385BB, 401742KB, 401064FR, 400583HS, 400650RM, 400032RC, 401133JG, 400198MD, 400060MC, 401377MA, 402033WD, 400207HN, 401519SA, 401864CV, 401506LK, 400171BJ, 401812HG, 401200BD, 401112LG, 401182OC, 401571SD, 402073LQ, 400271SR, 400581VJ, 400668TD | Known Genes | TMPRSS11E, UGT2B17 | 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) | dgv1490e212
| Frequency | Sample Size | 873 | Observed Gain | 26 | Observed Loss | 0 | Observed Complex | 0 | Frequency | n/a |
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