A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1006545



Internal ID6718662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:43914312..43918199hg38UCSC Ensembl
Outerchr20:42542952..42546839hg19UCSC Ensembl
Outerchr20:41976366..41980253hg18UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg383594
hg193594
hg183594
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565644
SamplesHuRef
Known GenesTOX2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1006545
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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