A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8697199



Internal ID15058234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:41187603..41189601hg38UCSC Ensembl
Innerchr9:41188601..41188603hg38UCSC Ensembl
Outerchr9:41186603..41190601hg38UCSC Ensembl
chr9:69260832..69262830hg19UCSC Ensembl
Innerchr9:69261830..69261832hg19UCSC Ensembl
Outerchr9:69259832..69263830hg19UCSC Ensembl
chr9:68550652..68552650hg18UCSC Ensembl
Innerchr9:68551652..68551650hg18UCSC Ensembl
Outerchr9:68549652..68553650hg18UCSC Ensembl
Cytoband9q12
Allele length
AssemblyAllele length
hg381999
hg191999
hg181999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3395969
Supporting Variants
SamplesNA19239
Known GenesCBWD5, CBWD6
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8697199
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer