A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3334457



Internal ID15181446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:28243790..28245288hg38UCSC Ensembl
Innerchr18:28244288..28244790hg38UCSC Ensembl
Outerchr18:28242790..28246288hg38UCSC Ensembl
chr18:25823754..25825252hg19UCSC Ensembl
Innerchr18:25824252..25824754hg19UCSC Ensembl
Outerchr18:25822754..25826252hg19UCSC Ensembl
chr18:24077752..24079250hg18UCSC Ensembl
Innerchr18:24078752..24078250hg18UCSC Ensembl
Outerchr18:24076752..24080250hg18UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8691189
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3334457
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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