A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5104167



Internal ID7848025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:29883666..29931716hg38UCSC Ensembl
Innerchr6:29851443..29899493hg19UCSC Ensembl
Innerchr6:29959422..30007472hg18UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3848051
hg1948051
hg1848051
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2421782
Supporting Variants
SamplesNA12875
Known GenesHCG4B, HLA-H
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)essv5104167
Frequency
Sample Size1184
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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