Variant DetailsVariant: dgv470e212Internal ID | 20148926 | Landmark | | Location Information | | Cytoband | 12p11.23 | Allele length | Assembly | Allele length | hg38 | 13381 | hg19 | 13381 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | esv3580206, esv3580200, esv3580203, esv3580204 | Samples | 400105BB, 401380OL, 401962BK, 400906BR, 400429YF, 401321CE, 400852WJ, 401368WR, 401582GG, 401551MB, 400718PS, 402012RR, 400749VW, 400507VD, 401785MJ, 400615RI, 401085LA, 401274PA, 401736BF, 400702PA, 400914ER, 400124FR, 400050RL, 401952UH, 400014SL, 401874DJ, 400274TL, 400458LS, 400501SJ, 401135CS, 401829FJ, 401354KM, 400266BA, 401517PR | 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) | dgv470e212
| Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 34 | Observed Complex | 0 | Frequency | n/a |
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