A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2515e59



Internal ID18988016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:46169210..46171108hg38UCSC Ensembl
chr21:47589124..47591022hg19UCSC Ensembl
chr21:46413552..46415450hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381899
hg191899
hg181899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3427294, esv3445126
SamplesNA19239, NA19240
Known GenesSPATC1L
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv2515e59
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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