A curated catalogue of human genomic structural variation




Variant Details

Variant: esv990423



Internal ID7061549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:56388153..56388153hg38UCSC Ensembl
chr20:54963209..54963209hg19UCSC Ensembl
chr20:54396616..54396616hg18UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3861
hg1961
hg1861
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3579138
SamplesHuRef
Known GenesAURKA
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv990423
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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