Variant DetailsVariant: esv3579032Internal ID | 18360544 | Landmark | | Location Information | | Cytoband | 10q23.2 | Allele length | Assembly | Allele length | hg38 | 6839 | hg19 | 6839 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | dgv266e212 | Supporting Variants | essv9794518, essv9794515, essv9794529, essv9794520, essv9794514, essv9794516, essv9794525, essv9794517, essv9794519, essv9794513, essv9794523, essv9794528, essv9794527, essv9794524, essv9794526, essv9794521 | Samples | 400141CC, 401151RJ, 401780BB, 401550SP, 400478WE, 400113LD, 400515ZG, 400768MN, 400660GK, 401119DK, 400547BS, 401112LG, 401315HK, 401215MJ, 402073LQ, 400923OA | Known Genes | OPN4 | 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) | esv3579032
| Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 16 | Observed Complex | 0 | Frequency | n/a |
|
|