Variant DetailsVariant: dgv967e212![](http://dgv.tcag.ca/gb2/gbrowse_img/dgv2_hg38/?name=chr18:673494..677339;width=800;overview=1) Internal ID | 20149423 | Landmark | | Location Information | | Cytoband | 18p11.32 | Allele length | Assembly | Allele length | hg38 | 3846 | hg19 | 3846 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | esv3582933, esv3582934, esv3582935, esv3582936 | Samples | 400534ME, 400619MP, 401380OL, 400294HD, 401302LJ, 401457WK, 401857VG, 401030GI, 400871CM, 400385LJ, 400609FJ, 401499JR, 402033WD, 401432SB, 401454CD, 401458RT, 400138LA, 401246HH | Known Genes | ENOSF1, TYMS | 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) | dgv967e212
| Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 18 | Observed Complex | 0 | Frequency | n/a |
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