Variant DetailsVariant: dgv874e212 Internal ID | 20149330 | Landmark | | Location Information | | Cytoband | 16q24.3 | Allele length | Assembly | Allele length | hg38 | 1331 | hg19 | 1331 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | esv3582444, esv3582451, esv3582439, esv3582450, esv3582442, esv3582443, esv3582441 | Samples | 400247CL, 400927BD, 400634MP, 401956DQ, 401299ST, 400083TG, 400852WJ, 400595CP, 400199SA, 400523GB, 400379BB, 400298ME, 401908YM, 400773GS, 400688FL, 401038LN, 401133JG, 400064WJ, 401950MD, 401526WB, 400543CK, 401630MK, 400050RL, 401619BT, 400524NJ, 401711WS, 400319HT, 400177CG, 400030WD, 400444MM, 401391PJ, 401881TJ, 401894PD, 400501SJ, 401786WD, 401100SJ, 400106PC, 401354KM, 400661AD, 401517PR | Known Genes | FANCA, ZNF276 | 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) | dgv874e212
| Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 40 | Observed Complex | 0 | Frequency | n/a |
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