A curated catalogue of human genomic structural variation




Variant Details

Variant: esv35033



Internal ID12991069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:180546560..180556514hg38UCSC Ensembl
Innerchr4:181467713..181477667hg19UCSC Ensembl
Innerchr4:181704707..181714661hg18UCSC Ensembl
Innerchr4:181842862..181852816hg17UCSC Ensembl
Cytoband4q34.3
Allele length
AssemblyAllele length
hg389955
hg199955
hg189955
hg179955
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6988159, essv6979355
SamplesNA18532
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)esv35033
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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