Variant DetailsVariant: esv3584437![](http://dgv.tcag.ca/gb2/gbrowse_img/dgv2_hg38/?name=chr14:51865924..51867316;width=800;overview=1) Internal ID | 18365949 | Landmark | | Location Information | | Cytoband | 14q22.1 | Allele length | Assembly | Allele length | hg38 | 1393 | hg19 | 1393 |
| Variant Type | CNV gain | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | essv9805781, essv9805776, essv9805777, essv9805782, essv9805783, essv9805780 | Samples | 402067KS, 400730SH, 400855BD, 400109LJ, 400076LC, 401778CB | Known Genes | GNG2 | 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) | esv3584437
| Frequency | Sample Size | 873 | Observed Gain | 6 | Observed Loss | 0 | Observed Complex | 0 | Frequency | n/a |
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