A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3563898



Internal ID6688281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:43667857..43677707hg38UCSC Ensembl
Outerchr21:45087738..45097588hg19UCSC Ensembl
Outerchr21:43912166..43922016hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg389851
hg199851
hg189851
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv999311
Supporting Variants
SamplesHuRef
Known GenesRRP1B
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3563898
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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