A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8822596



Internal ID14765811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:48110532..48110532hg38UCSC Ensembl
Innerchr19:48110531..48110533hg38UCSC Ensembl
Outerchr19:48110472..48110582hg38UCSC Ensembl
chr19:48613789..48613789hg19UCSC Ensembl
Innerchr19:48613788..48613790hg19UCSC Ensembl
Outerchr19:48613729..48613839hg19UCSC Ensembl
chr19:53305601..53305601hg18UCSC Ensembl
Innerchr19:53305602..53305600hg18UCSC Ensembl
Outerchr19:53305541..53305651hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3406045
Supporting Variants
SamplesNA19240
Known GenesPLA2G4C
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8822596
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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