Variant DetailsVariant: esv3575721 Internal ID | 18357233 | Landmark | | Location Information | | Cytoband | 4q13.2 | Allele length | Assembly | Allele length | hg38 | 118735 | hg19 | 118735 |
| Variant Type | CNV gain | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | dgv1490e212 | Supporting Variants | essv9771250, essv9771243, essv9771246, essv9771249, essv9771248, essv9771247, essv9771239, essv9771240, essv9771238, essv9771241 | Samples | 401385BB, 401742KB, 400583HS, 402033WD, 400171BJ, 401812HG, 401200BD, 402073LQ, 400581VJ, 400668TD | Known Genes | 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) | esv3575721
| Frequency | Sample Size | 873 | Observed Gain | 10 | Observed Loss | 0 | Observed Complex | 0 | Frequency | n/a |
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