A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34954



Internal ID12990990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:70360965..70371723hg38UCSC Ensembl
Innerchr4:71226682..71237440hg19UCSC Ensembl
Innerchr4:71261271..71272029hg18UCSC Ensembl
Innerchr4:71407442..71418200hg17UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg3810759
hg1910759
hg1810759
hg1710759
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6979609, essv6979610
SamplesNA18579
Known GenesSMR3A
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)esv34954
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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