A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34899



Internal ID12990935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:81381041..81451404hg38UCSC Ensembl
Innerchr6:82090758..82161121hg19UCSC Ensembl
Innerchr6:82147477..82217840hg18UCSC Ensembl
Innerchr6:82147477..82217840hg17UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg3870364
hg1970364
hg1870364
hg1770364
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6987370, essv6978308, essv6989014
SamplesNA18998
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34899
Frequency
Sample Size771
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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