A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3403001



Internal ID15249963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:130822018..130823116hg38UCSC Ensembl
Innerchr3:130822116..130823018hg38UCSC Ensembl
Outerchr3:130821018..130824116hg38UCSC Ensembl
chr3:130540862..130541960hg19UCSC Ensembl
Innerchr3:130540960..130541862hg19UCSC Ensembl
Outerchr3:130539862..130542960hg19UCSC Ensembl
chr3:132023552..132024650hg18UCSC Ensembl
Innerchr3:132024552..132023650hg18UCSC Ensembl
Outerchr3:132022552..132025650hg18UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg381099
hg191099
hg181099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8693842
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3403001
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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