A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8696972



Internal ID13661013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:62408955..62417953hg38UCSC Ensembl
Innerchr9:62409955..62416953hg38UCSC Ensembl
Outerchr9:62407955..62418953hg38UCSC Ensembl
chr9:46720256..46729254hg19UCSC Ensembl
Innerchr9:46721256..46728254hg19UCSC Ensembl
Outerchr9:46719256..46730254hg19UCSC Ensembl
chr9:46560252..46569250hg18UCSC Ensembl
Innerchr9:46561252..46568250hg18UCSC Ensembl
Outerchr9:46559252..46570250hg18UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg388999
hg198999
hg188999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3331502
Supporting Variants
SamplesNA12878
Known GenesKGFLP1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8696972
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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