A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1514e59



Internal ID22762734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:29381230..29388928hg38UCSC Ensembl
chr16:29392551..29400249hg19UCSC Ensembl
chr16:29300052..29307750hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg387699
hg197699
hg187699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3412537, esv3349051
SamplesNA19238, NA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv1514e59
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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