A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688750



Internal ID15084936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:109293203..109295101hg38UCSC Ensembl
Innerchr13:109294101..109294203hg38UCSC Ensembl
Outerchr13:109292203..109296101hg38UCSC Ensembl
chr13:109945551..109947449hg19UCSC Ensembl
Innerchr13:109946449..109946551hg19UCSC Ensembl
Outerchr13:109944551..109948449hg19UCSC Ensembl
chr13:108743552..108745450hg18UCSC Ensembl
Innerchr13:108744552..108744450hg18UCSC Ensembl
Outerchr13:108742552..108746450hg18UCSC 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 Variantsesv3414437
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688750
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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