Variant DetailsVariant: dgv438e212 Internal ID | 20148894 | Landmark | | Location Information | | Cytoband | 12p13.33 | Allele length | Assembly | Allele length | hg38 | 24014 | hg19 | 24014 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | esv3580057, esv3580048, esv3580045, esv3580056, esv3580043 | Samples | 401852SK, 400739SS, 400876OG, 401074CM, 400852WJ, 401927SK, 400625FT, 400325BE, 400077EB, 401093VL, 401368WR, 401556KR, 401500OM, 400523GB, 400606HW, 400337HG, 400460DM, 400320RN, 401566DD, 401165SB, 400385LJ, 402029KJ, 400109LJ, 401050GS, 400383HL, 401785MJ, 401950MD, 401594MP, 400496BL, 400093BL, 400375KA, 400829MR, 401619BT, 401606CG, 400278PD, 400474GF, 400837HN, 401844ZD, 401268PS, 402051AF, 400759FV, 400205SP, 401177SL, 401053MF, 400942HR, 401068SD, 401497PR | Known Genes | CACNA1C | 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) | dgv438e212
| Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 47 | Observed Complex | 0 | Frequency | n/a |
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