Variant DetailsVariant: dgv1754e212 Internal ID | 20150210 | Landmark | | Location Information | | Cytoband | 6p21.32 | Allele length | Assembly | Allele length | hg38 | 2958 | hg19 | 2958 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | esv3570968, esv3570967 | Samples | 400619MP, 400432VA, 400889CM, 401673DM, 401249TP, 400199SA, 401500OM, 400344DR, 400361HC, 400869BK, 401795SP, 40050SB, 401112LG, 4000046CJ, 401358VP, 400291VJ | Known Genes | HCG23 | 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) | dgv1754e212
| Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 16 | Observed Complex | 0 | Frequency | n/a |
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