A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13266022



Internal ID2044726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:96455754..96463998hg38UCSC Ensembl
Innerchr8:96455762..96463991hg38UCSC Ensembl
Outerchr8:96455747..96464006hg38UCSC Ensembl
chr8:97467982..97476226hg19UCSC Ensembl
Innerchr8:97467990..97476219hg19UCSC Ensembl
Outerchr8:97467975..97476234hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg388245
hg198245
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618122
Supporting Variants
SamplesHG01870
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13266022
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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