A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3428891



Internal ID15275847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:13934439..13935337hg38UCSC Ensembl
Innerchr19:13934438..13935338hg38UCSC Ensembl
Outerchr19:13933439..13936337hg38UCSC Ensembl
chr19:14045252..14046150hg19UCSC Ensembl
Innerchr19:14045251..14046151hg19UCSC Ensembl
Outerchr19:14044252..14047150hg19UCSC Ensembl
chr19:13906252..13907150hg18UCSC Ensembl
Innerchr19:13907151..13906251hg18UCSC Ensembl
Outerchr19:13905252..13908150hg18UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg38899
hg19899
hg18899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8691406
SamplesNA19240
Known GenesPODNL1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3428891
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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