A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3565644



Internal ID6690340
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 OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1006545
Supporting Variants
SamplesHuRef
Known GenesTOX2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3565644
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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