A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3419020



Internal ID14919292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:117209326..117210024hg38UCSC Ensembl
Innerchr11:117209325..117210025hg38UCSC Ensembl
Outerchr11:117208326..117211024hg38UCSC Ensembl
chr11:117080042..117080740hg19UCSC Ensembl
Innerchr11:117080041..117080741hg19UCSC Ensembl
Outerchr11:117079042..117081740hg19UCSC Ensembl
chr11:116585252..116585950hg18UCSC Ensembl
Innerchr11:116585951..116585251hg18UCSC Ensembl
Outerchr11:116584252..116586950hg18UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38699
hg19699
hg18699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8688178
SamplesNA12892
Known GenesPCSK7
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3419020
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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