A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3196e59



Internal ID20129945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:1211237..1212635hg38UCSC Ensembl
chr5:1211352..1212750hg19UCSC Ensembl
chr5:1264352..1265750hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3383745, esv3408990
SamplesNA19239, NA19240
Known GenesSLC6A19
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv3196e59
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