A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7755336



Internal ID14850409
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 StatusS
Merged Variantsesv3305657
Supporting Variants
SamplesNA19108
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7755336
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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