Variant DetailsVariant: esv3582693Internal ID | 18364205 | Landmark | | Location Information | | Cytoband | 1p21.1 | Allele length | Assembly | Allele length | hg38 | 22845 | hg19 | 22845 |
| Variant Type | CNV gain | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | dgv69e212 | Supporting Variants | essv9778101, essv9778090, essv9778112, essv9778078, essv9778123 | Samples | 401019MP, 400631SJ, 401785MJ, 401652HL, 400732MA | Known Genes | ACTG1P4, AMY2B | 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) | esv3582693
| Frequency | Sample Size | 873 | Observed Gain | 5 | Observed Loss | 0 | Observed Complex | 0 | Frequency | n/a |
|
|