A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2019e59



Internal ID20128768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:48821483..48823281hg38UCSC Ensembl
chr19:49324740..49326538hg19UCSC Ensembl
chr19:54016552..54018350hg18UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg381799
hg191799
hg181799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3359840, esv3345543
SamplesNA19239, NA19240
Known GenesHSD17B14
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv2019e59
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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