Variant DetailsVariant: dgv434e212 Internal ID | 20148890 | Landmark | | Location Information | | Cytoband | 12p13.33 | Allele length | Assembly | Allele length | hg38 | 11684 | hg19 | 11684 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | esv3580024, esv3580025, esv3580023, esv3580030 | Samples | 400313DF, 401500OM, 401132CH, 401038LN, 400032RC, 400416KA, 400702PA, 401067BD, 400978JG, 400518MS, 401268PS, 401025SM, 401010HT, 400267GD, 401781SL, 400013TA, 400942HR, 401395OP | Known Genes | ERC1 | 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) | dgv434e212
| Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 18 | Observed Complex | 0 | Frequency | n/a |
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