A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8674901



Internal ID15040487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:103264983..103265083hg38UCSC Ensembl
Innerchr3:103264968..103265096hg38UCSC Ensembl
Outerchr3:103264868..103265196hg38UCSC Ensembl
chr3:102983827..102983927hg19UCSC Ensembl
Innerchr3:102983812..102983940hg19UCSC Ensembl
Outerchr3:102983712..102984040hg19UCSC Ensembl
chr3:104466517..104466617hg18UCSC Ensembl
Innerchr3:104466630..104466502hg18UCSC Ensembl
Outerchr3:104466402..104466730hg18UCSC Ensembl
Cytoband3q13.11
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3325885
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8674901
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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