Variant DetailsVariant: esv3572649 Internal ID | 18354161 | Landmark | | Location Information | | Cytoband | 8p21.2 | Allele length | Assembly | Allele length | hg38 | 3584 | hg19 | 3584 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | essv9787739, essv9787736, essv9787731, essv9787729, essv9787737, essv9787728, essv9787730, essv9787734, essv9787733, essv9787738, essv9787727, essv9787726, essv9787735 | Samples | 401465TB, 400880TM, 400866RR, 401908YM, 400793BR, 400352CA, 400543CK, 401112LG, 400863SS, 400501SJ, 400996MC, 400930MK, 401912HD | Known Genes | DPYSL2 | 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) | esv3572649
| Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 13 | Observed Complex | 0 | Frequency | n/a |
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