Variant DetailsVariant: dgv505e212 Internal ID | 20148961 | Landmark | | Location Information | | Cytoband | 12q23.1 | Allele length | Assembly | Allele length | hg38 | 27938 | hg19 | 27938 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | esv3580414, esv3580413, esv3580411, esv3580412 | Samples | 400739SS, 400468OB, 401249TP, 400352CA, 401506LK, 400422PN, 400881GS, 401287CF, 400209BS | Known Genes | ANKS1B | 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) | dgv505e212
| Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 9 | Observed Complex | 0 | Frequency | n/a |
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