A curated catalogue of human genomic structural variation




Variant Details

Variant: esv988447



Internal ID7075718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:198078845..198086532hg38UCSC Ensembl
Outerchr2:198943569..198951256hg19UCSC Ensembl
Outerchr2:198651814..198659501hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg387688
hg197688
hg187688
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565585
SamplesHuRef
Known GenesPLCL1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv988447
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