A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3063791



Internal ID10736771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:45906867..45907303hg38UCSC Ensembl
Outerchr20:44535506..44535942hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38437
hg19437
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7333358
SamplesHuRef
Known GenesPLTP
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)esv3063791
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