A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3891479



Internal ID19185875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:128093059..128099163hg38UCSC Ensembl
Outerchr8:128093059..128099163hg38UCSC Ensembl
Innerchr8:129105305..129111409hg19UCSC Ensembl
Outerchr8:129105305..129111409hg19UCSC Ensembl
Innerchr8:129174487..129180591hg18UCSC Ensembl
Outerchr8:129174487..129180591hg18UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg386105
hg196105
hg186105
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25797906
Samples
Known GenesPVT1
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3891479
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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