Variant DetailsVariant: dgv1491e212![](http://dgv.tcag.ca/gb2/gbrowse_img/dgv2_hg38/?name=chr4:68500975..68678617;width=800;overview=1) Internal ID | 20149947 | Landmark | | Location Information | | Cytoband | 4q13.2 | Allele length | Assembly | Allele length | hg38 | 177643 | hg19 | 177643 |
| Variant Type | CNV gain | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | esv3575729, esv3575742, esv3575741, esv3575735, esv3575738, esv3575718 | Samples | 400618GC, 400313DF, 401117NA, 401975VD, 401538NS, 400109LJ, 401013GJ, 401952UH, 400705KK, 400177CG, 401894PD, 400996MC, 401932GN, 401066MM | Known Genes | UGT2B15, 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) | dgv1491e212
| Frequency | Sample Size | 873 | Observed Gain | 14 | Observed Loss | 0 | Observed Complex | 0 | Frequency | n/a |
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