A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1860e59



Internal ID22763080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:14510953..14515551hg38UCSC Ensembl
chr18:14510952..14515550hg19UCSC Ensembl
chr18:14500952..14505550hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg384599
hg194599
hg184599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3352180, esv3379755
SamplesNA19238, NA19240
Known GenesPOTEC
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv1860e59
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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