A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3385334



Internal ID14885616
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 Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8671545, essv8671544
SamplesNA19239, NA19240
Known GenesCOL27A1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3385334
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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