A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv820e59



Internal ID20127569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49877302..49881100hg38UCSC Ensembl
chr12:50271085..50274883hg19UCSC Ensembl
chr12:48557352..48561150hg18UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg383799
hg193799
hg183799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3378768, esv3380248, esv3401982
SamplesNA19239, NA19238, NA19240
Known GenesFAIM2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv820e59
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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