A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275314



Internal ID1534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:155692237..155692239hg38UCSC Ensembl
Outerchr4:155691601..155692567hg38UCSC Ensembl
Innerchr4:156613389..156613391hg19UCSC Ensembl
Outerchr4:156612753..156613719hg19UCSC Ensembl
Innerchr4:156832839..156832841hg18UCSC Ensembl
Outerchr4:156832203..156833169hg18UCSC Ensembl
Cytoband4q32.1
Allele length
AssemblyAllele length
hg38967
hg19967
hg18967
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585383
Samples
Known GenesGUCY1A3
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275314
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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