A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3362854



Internal ID14863115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:96257088..96257569hg38UCSC Ensembl
Innerchr13:96257267..96257387hg38UCSC Ensembl
Outerchr13:96256906..96257748hg38UCSC Ensembl
chr13:96909342..96909823hg19UCSC Ensembl
Innerchr13:96909521..96909641hg19UCSC Ensembl
Outerchr13:96909160..96910002hg19UCSC Ensembl
chr13:95707343..95707824hg18UCSC Ensembl
Innerchr13:95707522..95707642hg18UCSC Ensembl
Outerchr13:95707161..95708003hg18UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg38482
hg19482
hg18482
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8670644
SamplesNA19240
Known GenesHS6ST3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3362854
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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