Variant DetailsVariant: dgv913e212 Internal ID | 20149369 | Landmark | | Location Information | | Cytoband | 17q12 | Allele length | Assembly | Allele length | hg38 | 313633 | hg19 | 110094 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | esv3582632, esv3582633, esv3582635, esv3582621, esv3582631, esv3582634 | Samples | 401962BK, 400675HC, 402029KJ, 401691HA, 400977SC, 401661HD, 400859SC | 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) | dgv913e212
| Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 7 | Observed Complex | 0 | Frequency | n/a |
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