Variant DetailsVariant: dgv218e212 Internal ID | 20148674 | Landmark | | Location Information | | Cytoband | 10q11.22 | Allele length | Assembly | Allele length | hg38 | 182732 | hg19 | 182878 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | esv3578830, esv3578818, esv3578822, esv3578826, esv3578828, esv3578824, esv3578817, esv3578821, esv3578806, esv3578819, esv3578833 | Samples | 401221LD, 401077VC, 400191MP, 402012RR, 400749VW, 401609MB, 401067BD, 401875FG, 402074RR, 400168HC, 401250WD, 400508RD, 401111LH | Known Genes | GPRIN2, HNRNPA1P33, LINC00842, LOC100996758, NPY4R, SYT15 | 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) | dgv218e212
| Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 13 | Observed Complex | 0 | Frequency | n/a |
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