A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1002199



Internal ID6714333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:10402914..10415675hg38UCSC Ensembl
Outerchr21:11096782..11109543hg19UCSC Ensembl
Outerchr21:10118653..10131414hg18UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg3812762
hg1912762
hg1812762
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565269
SamplesHuRef
Known GenesBAGE, BAGE2, BAGE3, BAGE4, BAGE5
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1002199
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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