A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13238854



Internal ID5205335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:79853111..79854163hg38UCSC Ensembl
Innerchr8:79853161..79854113hg38UCSC Ensembl
Outerchr8:79853052..79854222hg38UCSC Ensembl
chr8:80765346..80766398hg19UCSC Ensembl
Innerchr8:80765396..80766348hg19UCSC Ensembl
Outerchr8:80765287..80766457hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg381053
hg191053
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617764
Supporting Variants
SamplesNA18616
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13238854
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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