A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8916220



Internal ID14084522
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 Flag1
Merged StatusS
Merged Variantsesv3431834
Supporting Variants
SamplesNA18912
Known GenesVEPH1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8916220
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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