Variant DetailsVariant: esv3579980 Internal ID | 18361492 | Landmark | | Location Information | | Cytoband | 11q25 | Allele length | Assembly | Allele length | hg38 | 3990 | hg19 | 3990 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | dgv425e212 | Supporting Variants | essv9799224, essv9799216, essv9799223, essv9799219, essv9799220, essv9799225, essv9799227, essv9799218, essv9799217, essv9799226, essv9799215, essv9799221 | Samples | 400572PJ, 400773GS, 400600DP, 400353ML, 400717BD, 400515ZG, 401813DN, 401778CB, 400788PV, 400483DP, 401315HK, 400138LA | Known Genes | OPCML | 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) | esv3579980
| Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 12 | Observed Complex | 0 | Frequency | n/a |
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