A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1000174



Internal ID6712321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:10334703..10569121hg38UCSC Ensembl
Outerchr21:10943336..11177754hg19UCSC Ensembl
Outerchr21:9965207..10199625hg18UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg38234419
hg19234419
hg18234419
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563562
SamplesHuRef
Known GenesBAGE, BAGE2, BAGE3, BAGE4, BAGE5, TPTE
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1000174
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer