A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13113843



Internal ID5181304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:13136123..13146766hg38UCSC Ensembl
Innerchr8:13136134..13146755hg38UCSC Ensembl
Outerchr8:13136112..13146777hg38UCSC Ensembl
chr8:12993632..13004275hg19UCSC Ensembl
Innerchr8:12993643..13004264hg19UCSC Ensembl
Outerchr8:12993621..13004286hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3810644
hg1910644
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616298
Supporting Variants
SamplesNA18606
Known GenesDLC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13113843
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer