A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11716391



Internal ID430972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:175312932..175495750hg38UCSC Ensembl
chr4:176234083..176416901hg19UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg38182819
hg19182819
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603250
Supporting Variants
SamplesHG00131
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11716391
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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