Variant DetailsVariant: esv3568437Internal ID | 18349949 | Landmark | | Location Information | | Cytoband | 22q13.31 | Allele length | Assembly | Allele length | hg38 | 6739 | hg19 | 6739 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | dgv1325e212 | Supporting Variants | essv9822357, essv9822361, essv9822352, essv9822355, essv9822358, essv9822354, essv9822351, essv9822359, essv9822360, essv9822350, essv9822353 | Samples | 400987FB, 401487FW, 401384BP, 400553PP, 400241CP, 401357MH, 400043HC, 401942MP, 401952UH, 401778CB, 401628GC | Known Genes | PRR5, PRR5-ARHGAP8 | 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) | esv3568437
| Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 11 | Observed Complex | 0 | Frequency | n/a |
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