Variant DetailsVariant: esv3579369 Internal ID | 18360881 | Landmark | | Location Information | | Cytoband | 11p15.3 | Allele length | Assembly | Allele length | hg38 | 8520 | hg19 | 8520 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | essv9796149, essv9796158, essv9796174, essv9796153, essv9796161, essv9796150, essv9796172, essv9796154, essv9796152, essv9796157, essv9796171, essv9796173, essv9796164, essv9796168, essv9796151, essv9796167, essv9796169, essv9796148, essv9796170, essv9796147, essv9796163, essv9796146, essv9796159, essv9796160, essv9796175, essv9796156, essv9796162, essv9796165 | Samples | 401275SJ, 401074CM, 400083TG, 400225CJ, 401926MR, 400227MM, 400343BD, 401401BA, 400374LB, 400038CK, 400955BE, 401606CG, 400047DS, 401067BD, 400598DA, 400329HJ, 400030WD, 401428LD, 400103BN, 402051AF, 400295PS, 401054VM, 402008MC, 401912HD, 400173KP, 401882CR, 400138LA, 400782IE | Known Genes | USP47 | 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) | esv3579369
| Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 28 | Observed Complex | 0 | Frequency | n/a |
|
|