A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275325



Internal ID348231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:71677204..71678269hg38UCSC Ensembl
Outerchr5:71672454..71678646hg38UCSC Ensembl
Innerchr5:70973031..70974096hg19UCSC Ensembl
Outerchr5:70968281..70974473hg19UCSC Ensembl
Innerchr5:71008787..71009852hg18UCSC Ensembl
Outerchr5:71004037..71010229hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg386193
hg196193
hg186193
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585590, essv2585752
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)esv275325
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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