A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv945e59



Internal ID20127694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132148854..132150852hg38UCSC Ensembl
chr12:132633399..132635397hg19UCSC Ensembl
chr12:131199352..131201350hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg381999
hg191999
hg181999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3395004, esv3434393
SamplesNA19239, NA19240
Known GenesNOC4L
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv945e59
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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