A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13237767



Internal ID5959447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:78906631..78915365hg38UCSC Ensembl
Innerchr8:78906631..78915365hg38UCSC Ensembl
Outerchr8:78906131..78915865hg38UCSC Ensembl
chr8:79818866..79827600hg19UCSC Ensembl
Innerchr8:79818866..79827600hg19UCSC Ensembl
Outerchr8:79818366..79828100hg19UCSC Ensembl
Cytoband8q21.12
Allele length
AssemblyAllele length
hg388735
hg198735
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617743
Supporting Variants
SamplesNA19376
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13237767
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