A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7734013



Internal ID13526982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:6560580..6570159hg38UCSC Ensembl
Outerchr1:6560380..6570359hg38UCSC Ensembl
Innerchr1:6620640..6630219hg19UCSC Ensembl
Outerchr1:6620440..6630419hg19UCSC Ensembl
Innerchr1:6543227..6552806hg18UCSC Ensembl
Outerchr1:6543027..6553006hg18UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg389980
hg199980
hg189980
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302807
Supporting Variants
SamplesNA18517
Known GenesTAS1R1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7734013
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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