Variant DetailsVariant: esv3580103 Internal ID | 18361615 | Landmark | | Location Information | | Cytoband | 12p13.2 | Allele length | Assembly | Allele length | hg38 | 9843 | hg19 | 9843 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | essv9800218, essv9800222, essv9800225, essv9800216, essv9800211, essv9800219, essv9800215, essv9800221, essv9800214, essv9800213, essv9800224, essv9800217, essv9800209, essv9800220, essv9800210 | Samples | 400424LN, 401117NA, 401966SR, 400553PP, 400325BE, 402016HZ, 400033KC, 401591BE, 400994HJ, 400050RL, 401295HB, 400069CN, 400128MJ, 4000046CJ, 402073LQ | Known Genes | KLRC2 | 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) | esv3580103
| Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 15 | Observed Complex | 0 | Frequency | n/a |
|
|