A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv708e59



Internal ID20127457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:117208126..117210224hg38UCSC Ensembl
chr11:117078842..117080940hg19UCSC Ensembl
chr11:116584052..116586150hg18UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg382099
hg192099
hg182099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3443576, esv3336126, esv3349417
SamplesNA19239, NA12891, NA12878
Known GenesPCSK7
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv708e59
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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