A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3576128



Internal ID18357640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:29869381..29953284hg38UCSC Ensembl
Innerchr6:29837158..29921061hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg3883904
hg1983904
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1728e212
Supporting Variantsessv9778471
Samples401860TJ
Known GenesHCG4B, HLA-A, HLA-H
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)esv3576128
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer