A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1854e59



Internal ID22763074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:14182653..14185251hg38UCSC Ensembl
chr18:14182652..14185250hg19UCSC Ensembl
chr18:14172652..14175250hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg382599
hg192599
hg182599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3385199, esv3450704
SamplesNA19238, NA19240
Known GenesANKRD20A5P
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv1854e59
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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