A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv740e59



Internal ID18986241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2539125..2539923hg38UCSC Ensembl
chr12:2648291..2649089hg19UCSC Ensembl
chr12:2518552..2519350hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38799
hg19799
hg18799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3350407, esv3446784
SamplesNA19239, NA19240
Known GenesCACNA1C
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv740e59
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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