A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv927e59



Internal ID22762147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123510152..123513250hg38UCSC Ensembl
chr12:123994699..123997797hg19UCSC Ensembl
chr12:122560652..122563750hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg383099
hg193099
hg183099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3325641, esv3413875
SamplesNA19238, NA19239
Known GenesRILPL1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv927e59
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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