A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8697304



Internal ID13733461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:65238226..65258324hg38UCSC Ensembl
Innerchr9:65239226..65257324hg38UCSC Ensembl
Outerchr9:65237226..65259324hg38UCSC Ensembl
chr9:70131832..70151930hg19UCSC Ensembl
Innerchr9:70132832..70150930hg19UCSC Ensembl
Outerchr9:70130832..70152930hg19UCSC Ensembl
chr9:69421652..69441750hg18UCSC Ensembl
Innerchr9:69422652..69440750hg18UCSC Ensembl
Outerchr9:69420652..69442750hg18UCSC Ensembl
Cytoband9q12
Allele length
AssemblyAllele length
hg3820099
hg1920099
hg1820099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3329559
Supporting Variants
SamplesNA12892
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8697304
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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