A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3391091



Internal ID14891372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:168466012..168466024hg38UCSC Ensembl
Innerchr2:168466014..168466022hg38UCSC Ensembl
Outerchr2:168466010..168466026hg38UCSC Ensembl
chr2:169322522..169322534hg19UCSC Ensembl
Innerchr2:169322524..169322532hg19UCSC Ensembl
Outerchr2:169322520..169322536hg19UCSC Ensembl
chr2:169030768..169030780hg18UCSC Ensembl
Innerchr2:169030770..169030778hg18UCSC Ensembl
Outerchr2:169030766..169030782hg18UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864045
SamplesNA12005
Known GenesCERS6
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3391091
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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