A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692088



Internal ID14763261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:18857471..18858969hg38UCSC Ensembl
Innerchr1:18857969..18858471hg38UCSC Ensembl
Outerchr1:18856471..18859969hg38UCSC Ensembl
chr1:19183965..19185463hg19UCSC Ensembl
Innerchr1:19184463..19184965hg19UCSC Ensembl
Outerchr1:19182965..19186463hg19UCSC Ensembl
chr1:19056552..19058050hg18UCSC Ensembl
Innerchr1:19057552..19057050hg18UCSC Ensembl
Outerchr1:19055552..19059050hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3348156
Supporting Variants
SamplesNA19240
Known GenesTAS1R2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692088
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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