Variant DetailsVariant: dgv912e212 Internal ID | 20149368 | Landmark | | Location Information | | Cytoband | 17q12 | Allele length | Assembly | Allele length | hg38 | 338265 | hg19 | 134723 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | esv3582626, esv3582624, esv3582622, esv3582630, esv3582625, esv3582620 | Samples | 401706BJ, 401400NP, 400821FE, 400572PJ, 401972BA, 400899NK, 400797ST, 400827MM, 400231LP, 400022WA, 400121PL, 401965TG, 400507VD, 401977ES, 400515ZG, 401251WN, 402033WD, 401589HP, 400768MN, 401563TK, 400724CD, 400686BM, 401889FR, 400571WV, 400354TJ, 40050SB, 401056TJ, 401912HD, 400923OA, 401068SD | Known Genes | LOC440434, TBC1D3, TBC1D3C, TBC1D3F, TBC1D3H | 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) | dgv912e212
| Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 30 | Observed Complex | 0 | Frequency | n/a |
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