A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv928e59



Internal ID18986429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124430653..124432451hg38UCSC Ensembl
chr12:124915199..124916997hg19UCSC Ensembl
chr12:123481152..123482950hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381799
hg191799
hg181799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3347322, esv3444035
SamplesNA19239, NA19240
Known GenesNCOR2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv928e59
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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