A curated catalogue of human genomic structural variation




Variant Details

Variant: esv35005



Internal ID12644355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31391871..31489844hg38UCSC Ensembl
Innerchr6:31359648..31457621hg19UCSC Ensembl
Innerchr6:31467627..31565600hg18UCSC Ensembl
Innerchr6:31467627..31565600hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3897974
hg1997974
hg1897974
hg1797974
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv215e55
Supporting Variantsessv6987798, essv6980483, essv6980485, essv6980484
SamplesNA19201
Known GenesHCG26, HCP5, MICA
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)esv35005
Frequency
Sample Size771
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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