Variant DetailsVariant: dgv2159e212 Internal ID | 20150615 | Landmark | | Location Information | | Cytoband | 9q21.12 | Allele length | Assembly | Allele length | hg38 | 9079 | hg19 | 9079 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | esv3573258, esv3573257 | Samples | 400987FB, 400802DP, 401146US, 401117NA, 400797ST, 401551MB, 401975VD, 401214BJ, 401994BD, 401739BJ, 400302HW, 401804FG, 401513KC, 400050RL, 401011PJ, 400732MA, 400458LS, 401496SL, 401315HK, 401786WD, 401265CB, 401567BD, 401576WC, 400021ME, 400704LC, 401180GR | Known Genes | SMC5 | 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) | dgv2159e212
| Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 26 | Observed Complex | 0 | Frequency | n/a |
|
|