A curated catalogue of human genomic structural variation




Variant Details

Variant: esv991017



Internal ID7061678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:32973326..32986390hg38UCSC Ensembl
Outerchr20:31561132..31574196hg19UCSC Ensembl
Outerchr20:31024793..31037857hg18UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg3813065
hg1913065
hg1813065
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564160
SamplesHuRef
Known GenesSUN5
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv991017
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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