Variant DetailsVariant: dgv439e212 Internal ID | 20148895 | Landmark | | Location Information | | Cytoband | 12p13.33 | Allele length | Assembly | Allele length | hg38 | 14106 | hg19 | 14106 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | esv3580046, esv3580062, esv3580053, esv3580060, esv3580064, esv3580051, esv3580055, esv3580063, esv3580049, esv3580059, esv3580047, esv3580052, esv3580044, esv3580058 | Samples | 401285HN, 400594VJ, 401783BD, 400655WB, 401845MJ, 401390DG, 402019MC, 402028BD, 400675HC, 400588BE, 400353ML, 400579HJ, 400729HC, 401238QR, 401739BJ, 401234MB, 400198MD, 400060MC, 400983PV, 400838AM, 400285FA, 401026AM, 401652HL, 401813DN, 401262RR, 401892MJ, 400249BC, 401067BD, 40050SB, 400444MM, 400069CN, 400863SS, 401543DC, 400177SJ, 401993HM, 400234CA, 401111LH | 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) | dgv439e212
| Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 37 | Observed Complex | 0 | Frequency | n/a |
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