A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8696957



Internal ID13732243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:62304855..62311853hg38UCSC Ensembl
Innerchr9:62305855..62310853hg38UCSC Ensembl
Outerchr9:62303855..62312853hg38UCSC Ensembl
chr9:46616156..46623154hg19UCSC Ensembl
Innerchr9:46617156..46622154hg19UCSC Ensembl
Outerchr9:46615156..46624154hg19UCSC Ensembl
chr9:46456152..46463150hg18UCSC Ensembl
Innerchr9:46457152..46462150hg18UCSC Ensembl
Outerchr9:46455152..46464150hg18UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg386999
hg196999
hg186999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3396105
Supporting Variants
SamplesNA12892
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8696957
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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