A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13136107



Internal ID2289984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:23775816..23787184hg38UCSC Ensembl
Innerchr8:23775966..23787034hg38UCSC Ensembl
Outerchr8:23775666..23787334hg38UCSC Ensembl
chr8:23633329..23644697hg19UCSC Ensembl
Innerchr8:23633479..23644547hg19UCSC Ensembl
Outerchr8:23633179..23644847hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg3811369
hg1911369
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616635
Supporting Variants
SamplesHG02049
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13136107
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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