A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5065513



Internal ID7809371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32529339..32604184hg38UCSC Ensembl
Innerchr6:32497116..32571961hg19UCSC Ensembl
Innerchr6:32605094..32679939hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3874846
hg1974846
hg1874846
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2421657
Supporting Variants
SamplesNA20515
Known GenesHLA-DRB1, HLA-DRB5, HLA-DRB6
MethodSNP array
AnalysisTo assess copy number variation we merged and analysed the probe level intensity data from both the Affymetrix and Illumina arrays.
PlatformNot specified
Comments
ReferenceAltshuler_et_al_2010
Pubmed ID20811451
Accession Number(s)essv5065513
Frequency
Sample Size1184
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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