A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8697326



Internal ID13733513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:65680015..65684613hg38UCSC Ensembl
Innerchr9:65681015..65683613hg38UCSC Ensembl
Outerchr9:65679015..65685613hg38UCSC Ensembl
chr9:70481432..70486030hg19UCSC Ensembl
Innerchr9:70482432..70485030hg19UCSC Ensembl
Outerchr9:70480432..70487030hg19UCSC Ensembl
chr9:69721252..69725850hg18UCSC Ensembl
Innerchr9:69722252..69724850hg18UCSC Ensembl
Outerchr9:69720252..69726850hg18UCSC 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 Variantsesv3382518
Supporting Variants
SamplesNA12892
Known GenesCBWD3, CBWD5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8697326
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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