Variant DetailsVariant: dgv656e212 Internal ID | 20149112 | Landmark | | Location Information | | Cytoband | 14q24.3 | Allele length | Assembly | Allele length | hg38 | 54449 | hg19 | 54449 |
| Variant Type | CNV gain | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | esv3568232, esv3568276, esv3568243, esv3568265, esv3568143, esv3568176 | Samples | 401285HN, 400272AE, 400852WJ, 401427CB, 401064FR, 401165SB, 401594MP, 401057SS, 400722OM, 400053LE, 401661HD, 401438HT, 401912HD | Known Genes | ACOT1, ACOT2, 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) | dgv656e212
| Frequency | Sample Size | 873 | Observed Gain | 13 | Observed Loss | 0 | Observed Complex | 0 | Frequency | n/a |
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