Variant DetailsVariant: esv3568567 Internal ID | 18350079 | Landmark | | Location Information | | Cytoband | 3p26.2 | Allele length | Assembly | Allele length | hg38 | 4974 | hg19 | 4974 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | essv9837409, essv9837414, essv9837417, essv9837412, essv9837415, essv9837423, essv9837419, essv9837411, essv9837422, essv9837418, essv9837420, essv9837416, essv9837413 | Samples | 400308SP, 400649PS, 401036WS, 401079HJ, 401783BD, 400643LD, 400545EW, 401136LB, 401029SD, 401406KF, 401419SW, 401084BD, 401567BD | Known Genes | CNTN4 | 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) | esv3568567
| Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 13 | Observed Complex | 0 | Frequency | n/a |
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