A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3354040



Internal ID15201021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:111620304..111622202hg38UCSC Ensembl
Innerchr13:111621202..111621304hg38UCSC Ensembl
Outerchr13:111619304..111623202hg38UCSC Ensembl
chr13:112272651..112274549hg19UCSC Ensembl
Innerchr13:112273549..112273651hg19UCSC Ensembl
Outerchr13:112271651..112275549hg19UCSC Ensembl
chr13:111070652..111072550hg18UCSC Ensembl
Innerchr13:111071652..111071550hg18UCSC Ensembl
Outerchr13:111069652..111073550hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg381899
hg191899
hg181899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1116e59
Supporting Variantsessv8688768
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3354040
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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