A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3308322



Internal ID15155270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:115511519..115511520hg38UCSC Ensembl
Innerchr5:115511403..115511636hg38UCSC Ensembl
Outerchr5:115511402..115511637hg38UCSC Ensembl
chr5:114847216..114847217hg19UCSC Ensembl
Innerchr5:114847100..114847333hg19UCSC Ensembl
Outerchr5:114847099..114847334hg19UCSC Ensembl
chr5:114875115..114875116hg18UCSC Ensembl
Innerchr5:114875232..114874999hg18UCSC Ensembl
Outerchr5:114874998..114875233hg18UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7837161, essv7837239, essv7838991
SamplesNA19238, NA19239, NA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3308322
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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