A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv519e59



Internal ID20127268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:124988293..124989691hg38UCSC Ensembl
chr10:126676862..126678260hg19UCSC Ensembl
chr10:126666852..126668250hg18UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3368840, esv3358280, esv3432429, esv3382938, esv3431180
SamplesNA19238, NA19239, NA12878, NA12892, NA19240
Known GenesCTBP2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv519e59
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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