A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3570994



Internal ID18352506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32807185..32816033hg38UCSC Ensembl
Innerchr6:32774962..32783810hg19UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg388849
hg198849
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1759e212
Supporting Variantsessv9779075, essv9779076, essv9779073, essv9779074
Samples400503HD, 400722OM, 400835FD, 400508RD
Known GenesHLA-DOB
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)esv3570994
Frequency
Sample Size873
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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