A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13338131



Internal ID4578747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:133820523..133823536hg38UCSC Ensembl
Innerchr8:133820523..133823536hg38UCSC Ensembl
Outerchr8:133820352..133823764hg38UCSC Ensembl
chr8:134832766..134835779hg19UCSC Ensembl
Innerchr8:134832766..134835779hg19UCSC Ensembl
Outerchr8:134832595..134836007hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg383014
hg193014
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618899
Supporting Variants
SamplesHG04093
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13338131
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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