Variant DetailsVariant: dgv868e212 Internal ID | 20149324 | Landmark | | Location Information | | Cytoband | 16q23.3 | Allele length | Assembly | Allele length | hg38 | 2684 | hg19 | 2684 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | esv3582404, esv3582406, esv3582403, esv3582402 | Samples | 401021SC, 400247CL, 401110GJ, 400063BR, 401052BM, 400132HN, 400876OG, 400970VE, 400083TG, 400506GN, 401899MB, 400077EB, 400379BB, 400893ZE, 401006ES, 401566DD, 401495NR, 402029KJ, 400186WC, 401192MJ, 400038CK, 401714BM, 400791GC, 401210PB, 400381CA, 401618HR, 400888MS, 401875FG, 401039PA, 401369GR, 401496SL, 400156WT, 400376SJ, 400235MP, 401143LK, 400106PC, 400084DM, 401177SL, 400238BB, 401517PR | Known Genes | CDH13 | 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) | dgv868e212
| Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 40 | Observed Complex | 0 | Frequency | n/a |
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