A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7520729



Internal ID10799011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68514282..68624282hg38UCSC Ensembl
Innerchr4:69380000..69490000hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38110001
hg19110001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3251162
Supporting Variants
SamplesHuRef
Known GenesUGT2B17
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)essv7520729
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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