A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3393363



Internal ID14893642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:83894017..83897615hg38UCSC Ensembl
Innerchr9:83895017..83896615hg38UCSC Ensembl
Outerchr9:83893017..83898615hg38UCSC Ensembl
chr9:86508932..86512530hg19UCSC Ensembl
Innerchr9:86509932..86511530hg19UCSC Ensembl
Outerchr9:86507932..86513530hg19UCSC Ensembl
chr9:85698752..85702350hg18UCSC Ensembl
Innerchr9:85699752..85701350hg18UCSC Ensembl
Outerchr9:85697752..85703350hg18UCSC Ensembl
Cytoband9q21.32
Allele length
AssemblyAllele length
hg383599
hg193599
hg183599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8697389
SamplesNA19239
Known GenesKIF27
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3393363
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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