A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8696985



Internal ID13660741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:62465155..62471453hg38UCSC Ensembl
Innerchr9:62466155..62470453hg38UCSC Ensembl
Outerchr9:62464155..62472453hg38UCSC Ensembl
chr9:46776456..46782754hg19UCSC Ensembl
Innerchr9:46777456..46781754hg19UCSC Ensembl
Outerchr9:46775456..46783754hg19UCSC Ensembl
chr9:46616452..46622750hg18UCSC Ensembl
Innerchr9:46617452..46621750hg18UCSC Ensembl
Outerchr9:46615452..46623750hg18UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg386299
hg196299
hg186299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3367647
Supporting Variants
SamplesNA12878
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8696985
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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