A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11068927



Internal ID3263055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:89402187..89472611hg38UCSC Ensembl
chr3:89451337..89521761hg19UCSC Ensembl
Cytoband3p11.1
Allele length
AssemblyAllele length
hg3870425
hg1970425
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596957
Supporting Variants
SamplesHG02882
Known GenesEPHA3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11068927
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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