A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13260199



Internal ID5879249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:93877670..93881034hg38UCSC Ensembl
Innerchr8:93877680..93881025hg38UCSC Ensembl
Outerchr8:93877661..93881044hg38UCSC Ensembl
chr8:94889898..94893262hg19UCSC Ensembl
Innerchr8:94889908..94893253hg19UCSC Ensembl
Outerchr8:94889889..94893272hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg383365
hg193365
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618063
Supporting Variants
SamplesNA19307
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13260199
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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