A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693888



Internal ID15008973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:176311470..176311768hg38UCSC Ensembl
Innerchr3:176311469..176311769hg38UCSC Ensembl
Outerchr3:176310470..176312768hg38UCSC Ensembl
chr3:176029258..176029556hg19UCSC Ensembl
Innerchr3:176029257..176029557hg19UCSC Ensembl
Outerchr3:176028258..176030556hg19UCSC Ensembl
chr3:177511952..177512250hg18UCSC Ensembl
Innerchr3:177512251..177511951hg18UCSC Ensembl
Outerchr3:177510952..177513250hg18UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg38299
hg19299
hg18299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3328335
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693888
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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