A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692087



Internal ID14684578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:18857471..18858869hg38UCSC Ensembl
Innerchr1:18857869..18858471hg38UCSC Ensembl
Outerchr1:18856471..18859869hg38UCSC Ensembl
chr1:19183965..19185363hg19UCSC Ensembl
Innerchr1:19184363..19184965hg19UCSC Ensembl
Outerchr1:19182965..19186363hg19UCSC Ensembl
chr1:19056552..19057950hg18UCSC Ensembl
Innerchr1:19057552..19056950hg18UCSC Ensembl
Outerchr1:19055552..19058950hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3403682
Supporting Variants
SamplesNA19238
Known GenesTAS1R2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692087
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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