A curated catalogue of human genomic structural variation




Variant Details

Variant: esv996791



Internal ID7063717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:52993132..53005186hg38UCSC Ensembl
Innerchr3:53027148..53039202hg19UCSC Ensembl
Innerchr3:53002188..53014242hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3812055
hg1912055
hg1812055
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv107e180
Supporting Variantsessv3586062
SamplesHuRef
Known GenesSFMBT1
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv996791
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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