A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3417342



Internal ID15264300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:111112836..111112855hg38UCSC Ensembl
Innerchr9:111112832..111112859hg38UCSC Ensembl
Outerchr9:111112813..111112878hg38UCSC Ensembl
chr9:113875116..113875135hg19UCSC Ensembl
Innerchr9:113875112..113875139hg19UCSC Ensembl
Outerchr9:113875093..113875158hg19UCSC Ensembl
chr9:112914937..112914956hg18UCSC Ensembl
Innerchr9:112914960..112914933hg18UCSC Ensembl
Outerchr9:112914914..112914979hg18UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8679407
SamplesNA19240
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3417342
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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