A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691278



Internal ID15062145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:75086008..75087106hg38UCSC Ensembl
Innerchr18:75086106..75087008hg38UCSC Ensembl
Outerchr18:75085008..75088106hg38UCSC Ensembl
chr18:72797964..72799062hg19UCSC Ensembl
Innerchr18:72798062..72798964hg19UCSC Ensembl
Outerchr18:72796964..72800062hg19UCSC Ensembl
chr18:70926952..70928050hg18UCSC Ensembl
Innerchr18:70927952..70927050hg18UCSC Ensembl
Outerchr18:70925952..70929050hg18UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg381099
hg191099
hg181099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3388477
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691278
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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