Variant DetailsVariant: essv9822271Internal ID | 18292919 | Landmark | | Location Information | | Cytoband | 22q13.2 | Allele length | Assembly | Allele length | hg38 | 63846 | hg19 | 63846 |
| Variant Type | CNV loss | Copy Number | 1 | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | S | Merged Variants | esv3568423 | Supporting Variants | | Samples | 400375KA | Known Genes | POLDIP3, RRP7B, SERHL2 | 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 | Number of probes=32 | Reference | Uddin_et_al_2014 | Pubmed ID | 25503493 | Accession Number(s) | essv9822271
| Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 1 | Observed Complex | 0 | Frequency | n/a |
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