Variant DetailsVariant: dgv978e212 Internal ID | 20149434 | Landmark | | Location Information | | Cytoband | 18q12.2 | Allele length | Assembly | Allele length | hg38 | 15789 | hg19 | 15789 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | esv3583007, esv3583012, esv3583008, esv3583010, esv3583009, esv3583011, esv3583006 | Samples | 400364SS, 401261HD, 401235IA, 401415CB, 401498HH, 400655WB, 401918CA, 400453LN, 400425SL, 401551MB, 401975VD, 400203NA, 401214BJ, 401566DD, 401038LN, 402029KJ, 401406KF, 400060MC, 401732HW, 401834CB, 401519SA, 401067BD, 400248JO, 402074RR, 400319HT, 401307VR, 401874DJ, 400611GG, 401693RC, 401552BK, 402073LQ, 400106PC, 400173KP, 401554VN, 401932GN, 401254AE, 401993HM, 401111LH, 400982BS | Known Genes | RPRD1A | 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) | dgv978e212
| Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 39 | Observed Complex | 0 | Frequency | n/a |
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