A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3427277



Internal ID14927547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:49796183..49797481hg38UCSC Ensembl
Innerchr19:49796481..49797183hg38UCSC Ensembl
Outerchr19:49795183..49798481hg38UCSC Ensembl
chr19:50299440..50300738hg19UCSC Ensembl
Innerchr19:50299738..50300440hg19UCSC Ensembl
Outerchr19:50298440..50301738hg19UCSC Ensembl
chr19:54991252..54992550hg18UCSC Ensembl
Innerchr19:54992252..54991550hg18UCSC Ensembl
Outerchr19:54990252..54993550hg18UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8691600
SamplesNA19240
Known GenesAP2A1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3427277
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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