A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752113



Internal ID12638979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:29868686..29948476hg38UCSC Ensembl
Innerchr6:29836463..29916253hg19UCSC Ensembl
Innerchr6:29944442..30024232hg18UCSC Ensembl
Innerchr6:29944442..30024232hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3879791
hg1979791
hg1879791
hg1779791
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv211e55
Supporting Variantsessv6980680, essv6987833
SamplesBEC_104
Known GenesHCG4B, HLA-A, HLA-H
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2752113
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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