A curated catalogue of human genomic structural variation




Variant Details

Variant: esv991815



Internal ID6727779
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 Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565178
SamplesHuRef
Known GenesPREX1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv991815
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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