Variant DetailsVariant: esv3567959 Internal ID | 18349471 | Landmark | | Location Information | | Cytoband | 20q11.23 | Allele length | Assembly | Allele length | hg38 | 10718 | hg19 | 10718 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | essv9819445, essv9819448, essv9819437, essv9819443, essv9819441, essv9819436, essv9819442, essv9819440, essv9819447, essv9819446, essv9819439, essv9819438 | Samples | 401162TM, 400569WC, 400101EH, 400622SJ, 401698SB, 401733CG, 401448BJ, 400663MD, 401874DJ, 401105WS, 400209BS, 400238BB | Known Genes | ACTR5 | 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) | esv3567959
| Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 12 | Observed Complex | 0 | Frequency | n/a |
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