A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275311



Internal ID348217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:67377067..67377232hg38UCSC Ensembl
Outerchr4:67375923..67386274hg38UCSC Ensembl
Innerchr4:68242785..68242950hg19UCSC Ensembl
Outerchr4:68241641..68251992hg19UCSC Ensembl
Innerchr4:67925380..67925545hg18UCSC Ensembl
Outerchr4:67924236..67934587hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3810352
hg1910352
hg1810352
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585616
Samples
Known Genes
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275311
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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