A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3336126



Internal ID14836397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:117208526..117210124hg38UCSC Ensembl
Innerchr11:117209124..117209526hg38UCSC Ensembl
Outerchr11:117207526..117211124hg38UCSC Ensembl
chr11:117079242..117080840hg19UCSC Ensembl
Innerchr11:117079840..117080242hg19UCSC Ensembl
Outerchr11:117078242..117081840hg19UCSC Ensembl
chr11:116584452..116586050hg18UCSC Ensembl
Innerchr11:116585452..116585050hg18UCSC Ensembl
Outerchr11:116583452..116587050hg18UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg381599
hg191599
hg181599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv708e59
Supporting Variantsessv8688177
SamplesNA12878
Known GenesPCSK7
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3336126
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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