A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv920e59



Internal ID22762140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:117125564..117129562hg38UCSC Ensembl
chr12:117563369..117567367hg19UCSC Ensembl
chr12:116047752..116051750hg18UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg383999
hg193999
hg183999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3428816, esv3390043, esv3415031
SamplesNA19238, NA19239, NA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv920e59
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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