A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5130n71



Internal ID6322750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:46879831..46967040hg19UCSC Ensembl
chr3:46854835..46942044hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnsv876752, nsv876753
SamplesIS35484, IS33162
Known GenesCCDC12, MYL3, PTH1R
Method
Analysis
Platform
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)dgv5130n71
Frequency
Sample Size6533
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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