Variant DetailsVariant: esv3584804![](http://dgv.tcag.ca/gb2/gbrowse_img/dgv2_hg18/?name=chr4:69043083..69168574;width=800;overview=1) Internal ID | 18423588 | Landmark | | Location Information | | Cytoband | 4q13.2 | Allele length | Assembly | Allele length | hg38 | 125492 | hg19 | 125492 | hg18 | 125492 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | essv9838844, essv9838850, essv9838847, essv9838851, essv9838840, essv9838849, essv9838848, essv9838846, essv9838841 | Samples | OA005, OA0039, OA2A, OA018, KSM003, OA013, OA072, KSF024, OA016 | Known Genes | TMPRSS11E, UGT2B17 | Method | SNP array | Analysis | We applied stringent filtering criteria such that CNV had to be a minimum of 1 kb and span 5 consecutive probes, and be detected by at least 2 out of the 3 algorithms. In addition we excluded CNVs that were on the X and Y-chromosomes, or approximately 300 kb adjacent to the centromeres and telomeres. | Platform | Affymetrix Genome-Wide Human SNP Array 6.0 | Comments | | Reference | Mokhtar_et_al_2014 | Pubmed ID | 24956385 | Accession Number(s) | esv3584804
| Frequency | Sample Size | 34 | Observed Gain | 0 | Observed Loss | 9 | Observed Complex | 0 | Frequency | n/a |
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