A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3579462



Internal ID18707660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:32224095..32228971hg38UCSC Ensembl
Innerchr11:32245641..32250517hg19UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg384877
hg194877
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9796812, essv9796807, essv9796796, essv9796795, essv9796813, essv9796790, essv9796809, essv9796798, essv9796806, essv9796816, essv9796786, essv9796803, essv9796815, essv9796797, essv9796802, essv9796804, essv9796794, essv9796792, essv9796791, essv9796808, essv9796788, essv9796819, essv9796801, essv9796817, essv9796799, essv9796814, essv9796793, essv9796785, essv9796805, essv9796818, essv9796787, essv9796810
Samples401420PJ, 400739SS, 401673DM, 401355CD, 401190WC, 401687LR, 401104DM, 402061PI, 401646MC, 400383HL, 400955BE, 400960TN, 400122PL, 401278DM, 400381CA, 400124FR, 401606CG, 401711WS, 400319HT, 401696CG, 401391PJ, 400837HN, 400624RJ, 400601WC, 400881GS, 400376SJ, 400312CR, 401166WJ, 400150SS, 401246HH, 401207DA, 401497PR
Known Genes
MethodSNP array
AnalysisWe 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.
PlatformAffymetrix CytoScan HD 2.7M array
Comments
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)esv3579462
Frequency
Sample Size873
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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