A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8740887



Internal ID15084598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:22452207..22452446hg38UCSC Ensembl
Innerchr18:22452257..22452396hg38UCSC Ensembl
Outerchr18:22452157..22452496hg38UCSC Ensembl
chr18:20032170..20032409hg19UCSC Ensembl
Innerchr18:20032220..20032359hg19UCSC Ensembl
Outerchr18:20032120..20032459hg19UCSC Ensembl
chr18:18286168..18286407hg18UCSC Ensembl
Innerchr18:18286218..18286357hg18UCSC Ensembl
Outerchr18:18286118..18286457hg18UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg38240
hg19240
hg18240
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3414688
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8740887
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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