A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8697415



Internal ID15062217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:89748085..89750083hg38UCSC Ensembl
Innerchr9:89749083..89749085hg38UCSC Ensembl
Outerchr9:89747085..89751083hg38UCSC Ensembl
chr9:92449532..92451530hg19UCSC Ensembl
Innerchr9:92450530..92450532hg19UCSC Ensembl
Outerchr9:92448532..92452530hg19UCSC Ensembl
chr9:91589352..91591350hg18UCSC Ensembl
Innerchr9:91590352..91590350hg18UCSC Ensembl
Outerchr9:91588352..91592350hg18UCSC Ensembl
Cytoband9q22.2
Allele length
AssemblyAllele length
hg381999
hg191999
hg181999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3330402
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8697415
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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