A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8697003



Internal ID13706594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:62566155..62584453hg38UCSC Ensembl
Innerchr9:62567155..62583453hg38UCSC Ensembl
Outerchr9:62565155..62585453hg38UCSC Ensembl
chr9:46877456..46895754hg19UCSC Ensembl
Innerchr9:46878456..46894754hg19UCSC Ensembl
Outerchr9:46876456..46896754hg19UCSC Ensembl
chr9:46717452..46735750hg18UCSC Ensembl
Innerchr9:46718452..46734750hg18UCSC Ensembl
Outerchr9:46716452..46736750hg18UCSC Ensembl
Cytoband9p11.1
Allele length
AssemblyAllele length
hg3818299
hg1918299
hg1818299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3432124
Supporting Variants
SamplesNA12891
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8697003
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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