A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305657



Internal ID15152605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:24810151..24810152hg38UCSC Ensembl
Innerchr18:24810098..24810205hg38UCSC Ensembl
Outerchr18:24810097..24810206hg38UCSC Ensembl
chr18:22390115..22390116hg19UCSC Ensembl
Innerchr18:22390062..22390169hg19UCSC Ensembl
Outerchr18:22390061..22390170hg19UCSC Ensembl
chr18:20644113..20644114hg18UCSC Ensembl
Innerchr18:20644167..20644060hg18UCSC Ensembl
Outerchr18:20644059..20644168hg18UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg38226
hg19226
hg18226
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7759168, essv7744221, essv7760177, essv7755336
SamplesNA18508, NA18510, NA19108, NA18501
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305657
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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