A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1001034



Internal ID7066163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:37471501..37480340hg38UCSC Ensembl
Outerchr21:38843803..38852642hg19UCSC Ensembl
Outerchr21:37765673..37774512hg18UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg388840
hg198840
hg188840
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565123
SamplesHuRef
Known GenesDYRK1A
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1001034
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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