A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3310462



Internal ID14810727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:79684207..79685615hg38UCSC Ensembl
Outerchr18:79684207..79685615hg38UCSC Ensembl
Innerchr18:77444207..77445615hg19UCSC Ensembl
Outerchr18:77444207..77445615hg19UCSC Ensembl
Innerchr18:75546603..75545195hg18UCSC Ensembl
Outerchr18:75545195..75546603hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg381386
hg191386
hg181386
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7843538
SamplesNA19240
Known GenesCTDP1
MethodSequencing
Analysismapreads
PlatformABI SOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3310462
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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