A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7732262



Internal ID14461912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:24042971..24053130hg38UCSC Ensembl
Outerchr18:24042771..24053330hg38UCSC Ensembl
Innerchr18:21622935..21633094hg19UCSC Ensembl
Outerchr18:21622735..21633294hg19UCSC Ensembl
Innerchr18:19876933..19887092hg18UCSC Ensembl
Outerchr18:19876733..19887292hg18UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg3810560
hg1910560
hg1810560
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302765
Supporting Variants
SamplesNA18942
Known GenesTTC39C
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7732262
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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