A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv913e59



Internal ID20127662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:113091446..113091622hg38UCSC Ensembl
chr12:113529251..113529427hg19UCSC Ensembl
chr12:112013634..112013810hg18UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg38177
hg19177
hg18177
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3302577, esv3303061
SamplesNA12249, NA11931, NA12761, NA12891, NA10851, NA12749, NA12717
Known GenesDTX1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv913e59
Frequency
Sample Size185
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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