A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3891453



Internal ID18839163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:103434468..103657952hg38UCSC Ensembl
Outerchr8:103434468..103657952hg38UCSC Ensembl
Innerchr8:104446696..104670180hg19UCSC Ensembl
Outerchr8:104446696..104670180hg19UCSC Ensembl
Innerchr8:104515872..104739356hg18UCSC Ensembl
Outerchr8:104515872..104739356hg18UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg38223485
hg19223485
hg18223485
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25790721
Samples
Known GenesDCAF13, RIMS2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3891453
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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