A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693901



Internal ID15039817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:191450869..191452667hg38UCSC Ensembl
Innerchr3:191451667..191451869hg38UCSC Ensembl
Outerchr3:191449869..191453667hg38UCSC Ensembl
chr3:191168658..191170456hg19UCSC Ensembl
Innerchr3:191169456..191169658hg19UCSC Ensembl
Outerchr3:191167658..191171456hg19UCSC Ensembl
chr3:192651352..192653150hg18UCSC Ensembl
Innerchr3:192652352..192652150hg18UCSC Ensembl
Outerchr3:192650352..192654150hg18UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg381799
hg191799
hg181799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3332996
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693901
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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