A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3341124



Internal ID15188111
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 StatusM
Merged Variants
Supporting Variantsessv8972992, essv8972994, essv8972990, essv8972993
SamplesNA18508, NA18510, NA19108, NA18501
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3341124
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer