A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2424e59



Internal ID22763644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:30345915..30404313hg38UCSC Ensembl
chr20:29580591..29638989hg19UCSC Ensembl
chr20:28194252..28252650hg18UCSC Ensembl
Cytoband20q11.1
Allele length
AssemblyAllele length
hg3858399
hg1958399
hg1858399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3337149, esv3343795, esv3441285, esv3359503, esv3380005, esv3336027
SamplesNA12891, NA19238, NA19239, NA12878, NA12892, NA19240
Known GenesFRG1B, MLLT10P1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv2424e59
Frequency
Sample Size185
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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