A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691279



Internal ID15105155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:75086008..75087406hg38UCSC Ensembl
Innerchr18:75086406..75087008hg38UCSC Ensembl
Outerchr18:75085008..75088406hg38UCSC Ensembl
chr18:72797964..72799362hg19UCSC Ensembl
Innerchr18:72798362..72798964hg19UCSC Ensembl
Outerchr18:72796964..72800362hg19UCSC Ensembl
chr18:70926952..70928350hg18UCSC Ensembl
Innerchr18:70927952..70927350hg18UCSC Ensembl
Outerchr18:70925952..70929350hg18UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3360254
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691279
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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