A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1516e59



Internal ID20128265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30223230..30227128hg38UCSC Ensembl
chr16:30234551..30238449hg19UCSC Ensembl
chr16:30142052..30145950hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg383899
hg193899
hg183899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3337799, esv3333024
SamplesNA19238, NA19240
Known GenesLOC613037
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv1516e59
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