A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13267381



Internal ID5886384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:98376284..98376765hg38UCSC Ensembl
Innerchr8:98376334..98376715hg38UCSC Ensembl
Outerchr8:98376232..98376817hg38UCSC Ensembl
chr8:99388512..99388993hg19UCSC Ensembl
Innerchr8:99388562..99388943hg19UCSC Ensembl
Outerchr8:99388460..99389045hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg38482
hg19482
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618151
Supporting Variants
SamplesNA19310
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13267381
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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