A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7763145



Internal ID14412449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:82710089..82710090hg38UCSC Ensembl
Innerchr13:82710058..82710121hg38UCSC Ensembl
Outerchr13:82710057..82710122hg38UCSC Ensembl
chr13:83284224..83284225hg19UCSC Ensembl
Innerchr13:83284193..83284256hg19UCSC Ensembl
Outerchr13:83284192..83284257hg19UCSC Ensembl
chr13:82182225..82182226hg18UCSC Ensembl
Innerchr13:82182257..82182194hg18UCSC Ensembl
Outerchr13:82182193..82182258hg18UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg381038
hg191038
hg181038
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3304513
Supporting Variants
SamplesNA18907
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7763145
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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