A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1596e59



Internal ID22762816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:34940080..34963278hg38UCSC Ensembl
chr16:34174451..34197649hg19UCSC Ensembl
chr16:34031952..34055150hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3823199
hg1923199
hg1823199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3409991, esv3323409, esv3342455, esv3381305, esv3337083, esv3350528
SamplesNA12891, NA19238, NA19239, NA12878, NA12892, NA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv1596e59
Frequency
Sample Size185
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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