A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1989e59



Internal ID22763209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:14443440..14444938hg38UCSC Ensembl
chr19:14554252..14555750hg19UCSC Ensembl
chr19:14415252..14416750hg18UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3440875, esv3333730
SamplesNA19239, NA19240
Known GenesPKN1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv1989e59
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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