A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8697114



Internal ID15027709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:63304160..63308758hg38UCSC Ensembl
Innerchr9:63305160..63307758hg38UCSC Ensembl
Outerchr9:63303160..63309758hg38UCSC Ensembl
chr9:67259132..67263730hg19UCSC Ensembl
Innerchr9:67260132..67262730hg19UCSC Ensembl
Outerchr9:67258132..67264730hg19UCSC Ensembl
chr9:66948952..66953550hg18UCSC Ensembl
Innerchr9:66949952..66952550hg18UCSC Ensembl
Outerchr9:66947952..66954550hg18UCSC Ensembl
Cytoband9q12
Allele length
AssemblyAllele length
hg384599
hg194599
hg184599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3387875
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8697114
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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