Variant DetailsVariant: dgv843e212![](http://dgv.tcag.ca/gb2/gbrowse_img/dgv2_hg38/?name=chr16:55808590..55825046;width=800;overview=1) Internal ID | 20149299 | Landmark | | Location Information | | Cytoband | 16q12.2 | Allele length | Assembly | Allele length | hg38 | 16457 | hg19 | 16457 |
| Variant Type | CNV gain | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | esv3571376, esv3571197 | Samples | 401162TM, 401235IA, 400674CA, 400515ZG, 401736BF, 400543CK, 401606CG, 400211BJ, 400524NJ, 400520FM, 400837HN, 401661HD, 401152MV, 402023EC | Known Genes | CES1 | 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) | dgv843e212
| Frequency | Sample Size | 873 | Observed Gain | 14 | Observed Loss | 0 | Observed Complex | 0 | Frequency | n/a |
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