A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8671544



Internal ID14714360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:114173242..114173450hg38UCSC Ensembl
Innerchr9:114173263..114173429hg38UCSC Ensembl
Outerchr9:114173221..114173471hg38UCSC Ensembl
chr9:116935522..116935730hg19UCSC Ensembl
Innerchr9:116935543..116935709hg19UCSC Ensembl
Outerchr9:116935501..116935751hg19UCSC Ensembl
chr9:115975343..115975551hg18UCSC Ensembl
Innerchr9:115975364..115975530hg18UCSC Ensembl
Outerchr9:115975322..115975572hg18UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg38209
hg19209
hg18209
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3385334
Supporting Variants
SamplesNA19239
Known GenesCOL27A1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8671544
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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