A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2383e59



Internal ID22763603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:1277108..1278406hg38UCSC Ensembl
chr20:1257752..1259050hg19UCSC Ensembl
chr20:1205752..1207050hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3342903, esv3360127
SamplesNA19239, NA19240
Known GenesSNPH
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv2383e59
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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