A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3331462



Internal ID14831737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:261869..263367hg38UCSC Ensembl
Innerchr3:262367..262869hg38UCSC Ensembl
Outerchr3:260869..264367hg38UCSC Ensembl
chr3:303552..305050hg19UCSC Ensembl
Innerchr3:304050..304552hg19UCSC Ensembl
Outerchr3:302552..306050hg19UCSC Ensembl
chr3:278552..280050hg18UCSC Ensembl
Innerchr3:279552..279050hg18UCSC Ensembl
Outerchr3:277552..281050hg18UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8694068
SamplesNA19238
Known GenesCHL1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3331462
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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