A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8697102



Internal ID15103346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:63142160..63144758hg38UCSC Ensembl
Innerchr9:63143160..63143758hg38UCSC Ensembl
Outerchr9:63141160..63145758hg38UCSC Ensembl
chr9:67047132..67049730hg19UCSC Ensembl
Innerchr9:67048132..67048730hg19UCSC Ensembl
Outerchr9:67046132..67050730hg19UCSC Ensembl
chr9:66786952..66789550hg18UCSC Ensembl
Innerchr9:66787952..66788550hg18UCSC Ensembl
Outerchr9:66785952..66790550hg18UCSC Ensembl
Cytoband9q12
Allele length
AssemblyAllele length
hg382599
hg192599
hg182599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3421656
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8697102
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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