A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv278e215



Internal ID19010069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42715357..42719890hg38UCSC Ensembl
chr21:44135467..44140000hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg384534
hg194534
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3557772, esv3557771
Samples
Known GenesPDE9A
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)dgv278e215
Frequency
Sample Size767
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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