A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688754



Internal ID15046663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:110825404..110827102hg38UCSC Ensembl
Innerchr13:110826102..110826404hg38UCSC Ensembl
Outerchr13:110824404..110828102hg38UCSC Ensembl
chr13:111477751..111479449hg19UCSC Ensembl
Innerchr13:111478449..111478751hg19UCSC Ensembl
Outerchr13:111476751..111480449hg19UCSC Ensembl
chr13:110275752..110277450hg18UCSC Ensembl
Innerchr13:110276752..110276450hg18UCSC Ensembl
Outerchr13:110274752..110278450hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg381699
hg191699
hg181699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3351643
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688754
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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