A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585752



Internal ID347331
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 loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275325
Supporting Variants
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)essv2585752
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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