A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3197123



Internal ID11216789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:52991984..53003984hg38UCSC Ensembl
Innerchr3:53026000..53038000hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3812001
hg1912001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv21e209
Supporting Variantsessv7466690
SamplesHuRef
Known GenesSFMBT1
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)esv3197123
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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