A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3392916



Internal ID15239881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:111620604..111622102hg38UCSC Ensembl
Innerchr13:111621102..111621604hg38UCSC Ensembl
Outerchr13:111619604..111623102hg38UCSC Ensembl
chr13:112272951..112274449hg19UCSC Ensembl
Innerchr13:112273449..112273951hg19UCSC Ensembl
Outerchr13:112271951..112275449hg19UCSC Ensembl
chr13:111070952..111072450hg18UCSC Ensembl
Innerchr13:111071952..111071450hg18UCSC Ensembl
Outerchr13:111069952..111073450hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1116e59
Supporting Variantsessv8688769
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3392916
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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