A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8652012



Internal ID14754344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:14595651..14596086hg38UCSC Ensembl
Innerchr19:14595651..14596086hg38UCSC Ensembl
Outerchr19:14595016..14597790hg38UCSC Ensembl
chr19:14706463..14706898hg19UCSC Ensembl
Innerchr19:14706463..14706898hg19UCSC Ensembl
Outerchr19:14705828..14708602hg19UCSC Ensembl
chr19:14567463..14567898hg18UCSC Ensembl
Innerchr19:14567463..14567898hg18UCSC Ensembl
Outerchr19:14566828..14569602hg18UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg38436
hg19436
hg18436
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3352877
Supporting Variants
SamplesNA19240
Known GenesCLEC17A
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8652012
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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