A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692085



Internal ID14719275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:18857271..18858869hg38UCSC Ensembl
Innerchr1:18857869..18858271hg38UCSC Ensembl
Outerchr1:18856271..18859869hg38UCSC Ensembl
chr1:19183765..19185363hg19UCSC Ensembl
Innerchr1:19184363..19184765hg19UCSC Ensembl
Outerchr1:19182765..19186363hg19UCSC Ensembl
chr1:19056352..19057950hg18UCSC Ensembl
Innerchr1:19057352..19056950hg18UCSC Ensembl
Outerchr1:19055352..19058950hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg381599
hg191599
hg181599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3451670
Supporting Variants
SamplesNA19239
Known GenesTAS1R2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692085
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer