A curated catalogue of human genomic structural variation




Variant Details

Variant: esv35161



Internal ID12991197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:3622648..3720832hg38UCSC Ensembl
Innerchr4:3624375..3722559hg19UCSC Ensembl
Innerchr4:3594173..3692357hg18UCSC Ensembl
Innerchr4:3661344..3759528hg17UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg3898185
hg1998185
hg1898185
hg1798185
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6980217, essv6987039
SamplesNA18969
Known GenesLOC100133461
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)esv35161
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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