A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3431834



Internal ID14932104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:157263483..157263503hg38UCSC Ensembl
Innerchr3:157263489..157263495hg38UCSC Ensembl
Outerchr3:157263469..157263515hg38UCSC Ensembl
chr3:156981272..156981292hg19UCSC Ensembl
Innerchr3:156981278..156981284hg19UCSC Ensembl
Outerchr3:156981258..156981304hg19UCSC Ensembl
chr3:158463966..158463986hg18UCSC Ensembl
Innerchr3:158463978..158463972hg18UCSC Ensembl
Outerchr3:158463952..158463998hg18UCSC Ensembl
Cytoband3q25.31
Allele length
AssemblyAllele length
hg38263
hg19263
hg18263
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8916216, essv8916217, essv8916219, essv8916218, essv8916220
SamplesNA18504, NA18871, NA18912, NA19099, NA19108
Known GenesVEPH1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3431834
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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