Variant DetailsVariant: dgv1080e212 Internal ID | 20149536 | Landmark | | Location Information | | Cytoband | 19q13.42 | Allele length | Assembly | Allele length | hg38 | 99780 | hg19 | 99768 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | esv3583543, esv3583548, esv3583546, esv3583539, esv3583547, esv3583536, esv3583541, esv3583544 | Samples | 400595CP, 401434VN, 400718PS, 401690HA, 400127MD, 401087SF, 401182OC, 401922MW, 400274TL, 401012TP, 400508RD | Known Genes | KIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL3, LOC100287534 | 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) | dgv1080e212
| Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 11 | Observed Complex | 0 | Frequency | n/a |
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