A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13136289



Internal ID5959455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:24072378..24079720hg38UCSC Ensembl
Innerchr8:24072378..24079720hg38UCSC Ensembl
Outerchr8:24072342..24079742hg38UCSC Ensembl
chr8:23929891..23937233hg19UCSC Ensembl
Innerchr8:23929891..23937233hg19UCSC Ensembl
Outerchr8:23929855..23937255hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg387343
hg197343
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616643
Supporting Variants
SamplesNA19376
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13136289
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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