A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3349417



Internal ID14849682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:117208226..117210224hg38UCSC Ensembl
Innerchr11:117209224..117209226hg38UCSC Ensembl
Outerchr11:117207226..117211224hg38UCSC Ensembl
chr11:117078942..117080940hg19UCSC Ensembl
Innerchr11:117079940..117079942hg19UCSC Ensembl
Outerchr11:117077942..117081940hg19UCSC Ensembl
chr11:116584152..116586150hg18UCSC Ensembl
Innerchr11:116585152..116585150hg18UCSC Ensembl
Outerchr11:116583152..116587150hg18UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg381999
hg191999
hg181999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv708e59
Supporting Variantsessv8688175
SamplesNA12891
Known GenesPCSK7
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3349417
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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