A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13238855



Internal ID2718057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:79953653..79958223hg38UCSC Ensembl
Innerchr8:79953713..79958164hg38UCSC Ensembl
Outerchr8:79953594..79958283hg38UCSC Ensembl
chr8:80865888..80870458hg19UCSC Ensembl
Innerchr8:80865948..80870399hg19UCSC Ensembl
Outerchr8:80865829..80870518hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg384571
hg194571
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617765
Supporting Variants
SamplesHG02395
Known GenesMRPS28
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13238855
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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