A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv775e59



Internal ID20127524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:20470446..20471094hg38UCSC Ensembl
chr12:20623380..20624028hg19UCSC Ensembl
chr12:20514647..20515295hg18UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg38649
hg19649
hg18649
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3303077, esv3302593
SamplesNA18870, NA19102, NA19238, NA18504, NA19138, NA19099
Known GenesPDE3A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv775e59
Frequency
Sample Size185
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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