A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3309689



Internal ID14809954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:46204364..46204365hg38UCSC Ensembl
Innerchr18:46204338..46204391hg38UCSC Ensembl
Outerchr18:46204337..46204392hg38UCSC Ensembl
chr18:43784330..43784331hg19UCSC Ensembl
Innerchr18:43784304..43784357hg19UCSC Ensembl
Outerchr18:43784303..43784358hg19UCSC Ensembl
chr18:42038328..42038329hg18UCSC Ensembl
Innerchr18:42038355..42038302hg18UCSC Ensembl
Outerchr18:42038301..42038356hg18UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38175
hg19175
hg18175
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7837172
SamplesNA19239
Known GenesC18orf25
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3309689
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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