A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302807



Internal ID14803069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:6560479..6570259hg38UCSC Ensembl
Innerchr1:6560579..6570159hg38UCSC Ensembl
Outerchr1:6560379..6570359hg38UCSC Ensembl
chr1:6620539..6630319hg19UCSC Ensembl
Innerchr1:6620639..6630219hg19UCSC Ensembl
Outerchr1:6620439..6630419hg19UCSC Ensembl
chr1:6543126..6552906hg18UCSC Ensembl
Innerchr1:6543226..6552806hg18UCSC Ensembl
Outerchr1:6543026..6553006hg18UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg389781
hg199781
hg189781
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7733376, essv7734013, essv7736227
SamplesNA18871, NA18945, NA18517
Known GenesTAS1R1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302807
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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