Variant DetailsVariant: dgv469e212Internal ID | 20148925 | Landmark | | Location Information | | Cytoband | 12p11.23 | Allele length | Assembly | Allele length | hg38 | 5199 | hg19 | 5199 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | esv3580201, esv3580199 | Samples | 400308SP, 400225CJ, 400503HD, 401725MR, 401307VR, 401149VA, 400013TA, 400079AP | Known Genes | SMCO2 | 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) | dgv469e212
| Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 8 | Observed Complex | 0 | Frequency | n/a |
|
|