A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694570



Internal ID15083814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:132483561..132488959hg38UCSC Ensembl
Innerchr5:132484561..132487959hg38UCSC Ensembl
Outerchr5:132482561..132489959hg38UCSC Ensembl
chr5:131819253..131824651hg19UCSC Ensembl
Innerchr5:131820253..131823651hg19UCSC Ensembl
Outerchr5:131818253..131825651hg19UCSC Ensembl
chr5:131847152..131852550hg18UCSC Ensembl
Innerchr5:131848152..131851550hg18UCSC Ensembl
Outerchr5:131846152..131853550hg18UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg385399
hg195399
hg185399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3416328
Supporting Variants
SamplesNA19240
Known GenesIRF1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694570
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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