Variant DetailsVariant: esv3582439 Internal ID | 18363951 | Landmark | | Location Information | | Cytoband | 16q24.3 | Allele length | Assembly | Allele length | hg38 | 1149 | hg19 | 1149 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | dgv874e212 | Supporting Variants | essv9812213, essv9812183, essv9812194, essv9812210, essv9812196, essv9812216, essv9812189, essv9812218, essv9812197, essv9812215, essv9812206, essv9812185, essv9812191, essv9812202, essv9812205, essv9812198, essv9812207, essv9812187, essv9812193, essv9812214, essv9812184, essv9812190, essv9812182, essv9812217, essv9812204, essv9812203, essv9812192 | Samples | 400247CL, 400634MP, 401956DQ, 400852WJ, 400595CP, 400199SA, 400523GB, 400379BB, 400773GS, 400688FL, 401038LN, 401133JG, 400064WJ, 401526WB, 400543CK, 401630MK, 400050RL, 401619BT, 400524NJ, 400319HT, 400030WD, 401894PD, 401786WD, 401100SJ, 400106PC, 401354KM, 400661AD | 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) | esv3582439
| Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 27 | Observed Complex | 0 | Frequency | n/a |
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