A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3343630



Internal ID15190615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:47192058..47196256hg38UCSC Ensembl
Innerchr3:47193058..47195256hg38UCSC Ensembl
Outerchr3:47191058..47197256hg38UCSC Ensembl
chr3:47233548..47237746hg19UCSC Ensembl
Innerchr3:47234548..47236746hg19UCSC Ensembl
Outerchr3:47232548..47238746hg19UCSC Ensembl
chr3:47208552..47212750hg18UCSC Ensembl
Innerchr3:47209552..47211750hg18UCSC Ensembl
Outerchr3:47207552..47213750hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg384199
hg194199
hg184199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8694081
SamplesNA12891
Known GenesKIF9-AS1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3343630
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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