A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3353997



Internal ID15200978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:667752..669250hg38UCSC Ensembl
Innerchr18:668250..668752hg38UCSC Ensembl
Outerchr18:666752..670250hg38UCSC Ensembl
chr18:667752..669250hg19UCSC Ensembl
Innerchr18:668250..668752hg19UCSC Ensembl
Outerchr18:666752..670250hg19UCSC Ensembl
chr18:657752..659250hg18UCSC Ensembl
Innerchr18:658752..658250hg18UCSC Ensembl
Outerchr18:656752..660250hg18UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8691271
SamplesNA19239
Known GenesTYMS
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3353997
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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