A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1186e59



Internal ID18986687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:19426895..19434619hg38UCSC Ensembl
chr14:20012852..20020550hg19UCSC Ensembl
chr14:19082852..19090550hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg387725
hg197699
hg187699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3381546, esv3435499, esv3350774
SamplesNA19239, NA12878, NA19240
Known GenesPOTEM
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv1186e59
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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