A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3343133



Internal ID15190118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:6034041..6034251hg38UCSC Ensembl
Innerchr4:6034091..6034201hg38UCSC Ensembl
Outerchr4:6033991..6034301hg38UCSC Ensembl
chr4:6035768..6035978hg19UCSC Ensembl
Innerchr4:6035818..6035928hg19UCSC Ensembl
Outerchr4:6035718..6036028hg19UCSC Ensembl
chr4:6086669..6086879hg18UCSC Ensembl
Innerchr4:6086719..6086829hg18UCSC Ensembl
Outerchr4:6086619..6086929hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38211
hg19211
hg18211
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8741166
SamplesNA19240
Known GenesJAKMIP1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3343133
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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