Variant DetailsVariant: esv3577865 Internal ID | 18359377 | Landmark | | Location Information | | Cytoband | 1p32.3 | Allele length | Assembly | Allele length | hg38 | 6282 | hg19 | 6282 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | essv9837776, essv9837732, essv9837743, essv9766646, essv9837765, essv9837809, essv9837754, essv9766712, essv9766768, essv9766668, essv9766779, essv9766679, essv9837721, essv9766701, essv9766657, essv9766734, essv9766745, essv9766812, essv9766801, essv9837798, essv9766790, essv9766757, essv9837787, essv9766690, essv9766723 | Samples | 400920MK, 400247CL, 400308SP, 400145BL, 400077EB, 401602PR, 400797ST, 401994BD, 400733SW, 400411TG, 400974PS, 401477ST, 401454CD, 401943KA, 400124FR, 401587RC, 400721DJ, 400788PV, 400451kh, 400601WC, 401265CB, 400785AK, 401154BR, 400012CJ, 400540BM | Known Genes | ACOT11 | 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) | esv3577865
| Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 25 | Observed Complex | 0 | Frequency | n/a |
|
|