A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8972992



Internal ID13784328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:24810156..24810198hg38UCSC Ensembl
Innerchr18:24810161..24810191hg38UCSC Ensembl
Outerchr18:24810119..24810235hg38UCSC Ensembl
chr18:22390120..22390162hg19UCSC Ensembl
Innerchr18:22390125..22390155hg19UCSC Ensembl
Outerchr18:22390083..22390199hg19UCSC Ensembl
chr18:20644118..20644160hg18UCSC Ensembl
Innerchr18:20644153..20644123hg18UCSC Ensembl
Outerchr18:20644081..20644197hg18UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg38265
hg19265
hg18265
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3341124
Supporting Variants
SamplesNA18501
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8972992
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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