Variant DetailsVariant: dgv917e212Internal ID | 20149373 | Landmark | | Location Information | | Cytoband | 17q12 | Allele length | Assembly | Allele length | hg38 | 15635 | hg19 | 15635 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | esv3582640, esv3582639 | Samples | 400606HW, 400127MD, 401664SD, 400609FJ, 401739BJ | Known Genes | PLXDC1 | 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) | dgv917e212
| Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 5 | Observed Complex | 0 | Frequency | n/a |
|
|