Variant DetailsVariant: esv3567991Internal ID | 18349503 | Landmark | | Location Information | | Cytoband | 20q13.12 | Allele length | Assembly | Allele length | hg38 | 33067 | hg19 | 33067 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | dgv1247e212 | Supporting Variants | essv9819689, essv9819694, essv9819692, essv9819687, essv9819690, essv9819693, essv9819697, essv9819695, essv9819691, essv9819686, essv9819696 | Samples | 401330RR, 401602PR, 400236DB, 401540NA, 400123WN, 400888MS, 400520FM, 400759FV, 401040KM, 400508RD, 400704LC | Known Genes | SPINT4 | 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) | esv3567991
| Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 11 | Observed Complex | 0 | Frequency | n/a |
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