A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8960372



Internal ID14837497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:47793868..47793892hg38UCSC Ensembl
Innerchr13:47793871..47793886hg38UCSC Ensembl
Outerchr13:47793847..47793913hg38UCSC Ensembl
chr13:48368003..48368027hg19UCSC Ensembl
Innerchr13:48368006..48368021hg19UCSC Ensembl
Outerchr13:48367982..48368048hg19UCSC Ensembl
chr13:47266004..47266028hg18UCSC Ensembl
Innerchr13:47266022..47266007hg18UCSC Ensembl
Outerchr13:47265983..47266049hg18UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg38261
hg19261
hg18261
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3332530
Supporting Variants
SamplesNA19102
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8960372
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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