Variant DetailsVariant: esv3583854 Internal ID | 18365366 | Landmark | | Location Information | | Cytoband | 2p14 | Allele length | Assembly | Allele length | hg38 | 10004 | hg19 | 10004 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | essv9827333, essv9827355, essv9827322, essv9827344, essv9827399, essv9827366, essv9827377, essv9827388 | Samples | 401911FL, 400134WK, 401690HA, 401834CB, 401011PJ, 400837HN, 402009WP, 401517PR | Known Genes | | 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) | esv3583854
| Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 8 | Observed Complex | 0 | Frequency | n/a |
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