A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980061



Internal ID12981195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:160943588..161000260hg38UCSC Ensembl
Innerchr4:161864740..161921412hg19UCSC Ensembl
Innerchr4:162084190..162140862hg18UCSC Ensembl
Innerchr4:162222345..162279017hg17UCSC Ensembl
Cytoband4q32.2
Allele length
AssemblyAllele length
hg3856673
hg1956673
hg1856673
hg1756673
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34413
Supporting Variants
SamplesNA18947
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980061
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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