A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1479e59



Internal ID20128228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:267152..268350hg38UCSC Ensembl
chr16:317151..318349hg19UCSC Ensembl
chr16:257152..258350hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3448129, esv3384660
SamplesNA19239, NA19240
Known GenesITFG3, RGS11
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv1479e59
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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