A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275302



Internal ID1522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:76580835..76580899hg38UCSC Ensembl
Outerchr4:76580192..76583247hg38UCSC Ensembl
Innerchr4:77501988..77502052hg19UCSC Ensembl
Outerchr4:77501345..77504400hg19UCSC Ensembl
Innerchr4:77721012..77721076hg18UCSC Ensembl
Outerchr4:77720369..77723424hg18UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg383056
hg193056
hg183056
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585258
Samples
Known GenesSHROOM3
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275302
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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