A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688748



Internal ID15045193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:109293103..109295001hg38UCSC Ensembl
Innerchr13:109294001..109294103hg38UCSC Ensembl
Outerchr13:109292103..109296001hg38UCSC Ensembl
chr13:109945451..109947349hg19UCSC Ensembl
Innerchr13:109946349..109946451hg19UCSC Ensembl
Outerchr13:109944451..109948349hg19UCSC Ensembl
chr13:108743452..108745350hg18UCSC Ensembl
Innerchr13:108744452..108744350hg18UCSC Ensembl
Outerchr13:108742452..108746350hg18UCSC Ensembl
Cytoband13q33.3
Allele length
AssemblyAllele length
hg381899
hg191899
hg181899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3400884
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688748
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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