A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3543952



Internal ID18745028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:104717597..104717619hg38UCSC Ensembl
Outerchr8:104717581..104717633hg38UCSC Ensembl
Innerchr8:105729825..105729847hg19UCSC Ensembl
Outerchr8:105729809..105729861hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9742699
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3543952
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