A curated catalogue of human genomic structural variation




Variant Details

Variant: esv35158



Internal ID12991194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31265733..31350444hg38UCSC Ensembl
Innerchr6:31233510..31318221hg19UCSC Ensembl
Innerchr6:31341489..31426200hg18UCSC Ensembl
Innerchr6:31341489..31426200hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3884712
hg1984712
hg1884712
hg1784712
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6990373, essv6979503, essv6979504, essv6979502
SamplesNA18563
Known GenesHLA-C
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)esv35158
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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