A curated catalogue of human genomic structural variation




Variant Details

Variant: esv993207



Internal ID7078540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:52993967..53004770hg38UCSC Ensembl
Innerchr3:53027983..53038786hg19UCSC Ensembl
Innerchr3:53003023..53013826hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3810804
hg1910804
hg1810804
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv107e180
Supporting Variantsessv3586046
SamplesHuRef
Known GenesSFMBT1
MethodSNP array
AnalysisPooled samples.
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv993207
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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