A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275029



Internal ID1249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:54705609..54716275hg38UCSC Ensembl
Outerchr4:54705595..54716297hg38UCSC Ensembl
Innerchr4:55571775..55582441hg19UCSC Ensembl
Outerchr4:55571761..55582463hg19UCSC Ensembl
Innerchr4:55266532..55277198hg18UCSC Ensembl
Outerchr4:55266518..55277220hg18UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3810703
hg1910703
hg1810703
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585733, essv2585357
Samples
Known GenesKIT
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275029
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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