A curated catalogue of human genomic structural variation




Variant Details

Variant: esv995110



Internal ID6731060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:42713691..42725543hg38UCSC Ensembl
Outerchr21:44133801..44145653hg19UCSC Ensembl
Outerchr21:43006870..43018722hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3811853
hg1911853
hg1811853
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565382
SamplesHuRef
Known GenesPDE9A
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv995110
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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