A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9742472



Internal ID18716718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:80158139..80158669hg38UCSC Ensembl
Outerchr8:80158135..80158675hg38UCSC Ensembl
Innerchr8:81070374..81070904hg19UCSC Ensembl
Outerchr8:81070370..81070910hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg38541
hg19541
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3543725
Supporting Variants
Samples
Known GenesTPD52
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9742472
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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