A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3413841



Internal ID14914114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:133824918..133826116hg38UCSC Ensembl
Innerchr3:133825116..133825918hg38UCSC Ensembl
Outerchr3:133823918..133827116hg38UCSC Ensembl
chr3:133543762..133544960hg19UCSC Ensembl
Innerchr3:133543960..133544762hg19UCSC Ensembl
Outerchr3:133542762..133545960hg19UCSC Ensembl
chr3:135026452..135027650hg18UCSC Ensembl
Innerchr3:135027452..135026650hg18UCSC Ensembl
Outerchr3:135025452..135028650hg18UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8693849
SamplesNA19239
Known GenesRAB6B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3413841
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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