A curated catalogue of human genomic structural variation




Variant Details

Variant: esv999403



Internal ID6735328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:10419645..10423005hg38UCSC Ensembl
Outerchr21:11089452..11092812hg19UCSC Ensembl
Outerchr21:10111323..10114683hg18UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg383361
hg193361
hg183361
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563900
SamplesHuRef
Known GenesBAGE, BAGE2, BAGE3, BAGE4, BAGE5
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv999403
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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