Variant DetailsVariant: dgv421e212 Internal ID | 20148877 | Landmark | | Location Information | | Cytoband | 11q24.2 | Allele length | Assembly | Allele length | hg38 | 13027 | hg19 | 13027 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | esv3579948, esv3579945, esv3579947, esv3579944 | Samples | 401036WS, 400073HT, 400338SR, 400353ML, 401495NR, 401376RD, 401726LW, 400040CN, 401526WB, 400829MR, 401630MK, 401700BN, 400329HJ, 401054VM, 400792RE, 401607LL, 400801HS | Known Genes | PKNOX2 | 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) | dgv421e212
| Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 17 | Observed Complex | 0 | Frequency | n/a |
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