Variant DetailsVariant: dgv653e212 Internal ID | 20149109 | Landmark | | Location Information | | Cytoband | 14q24.3 | Allele length | Assembly | Allele length | hg38 | 28271 | hg19 | 28271 |
| Variant Type | CNV gain | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | esv3568298, esv3568109, esv3568220, esv3568187, esv3568287 | Samples | 401235IA, 400509CJ, 400583HS, 400320RN, 400348DK, 400763BT, 401230NL, 400171BJ, 400454RE, 400728PB, 401250WD, 400213DB, 400300SD, 400243CK | Known Genes | ACOT1, HEATR4 | 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) | dgv653e212
| Frequency | Sample Size | 873 | Observed Gain | 14 | Observed Loss | 0 | Observed Complex | 0 | Frequency | n/a |
|
|