A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305278



Internal ID15152226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:41733542..41733543hg38UCSC Ensembl
Innerchr18:41733509..41733576hg38UCSC Ensembl
Outerchr18:41733508..41733577hg38UCSC Ensembl
chr18:39313506..39313507hg19UCSC Ensembl
Innerchr18:39313473..39313540hg19UCSC Ensembl
Outerchr18:39313472..39313541hg19UCSC Ensembl
chr18:37567504..37567505hg18UCSC Ensembl
Innerchr18:37567538..37567471hg18UCSC Ensembl
Outerchr18:37567470..37567539hg18UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg3863
hg1963
hg1863
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7741394, essv7745582, essv7744825
SamplesNA19190, NA18871, NA19147
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305278
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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