A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3565178



Internal ID6689874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:48796436..48806222hg38UCSC Ensembl
Outerchr20:47412973..47422759hg19UCSC Ensembl
Outerchr20:46846380..46856166hg18UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg389787
hg199787
hg189787
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv991815
Supporting Variants
SamplesHuRef
Known GenesPREX1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3565178
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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