A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1000250



Internal ID7065384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:56388092..56388092hg38UCSC Ensembl
chr20:54963148..54963148hg19UCSC Ensembl
chr20:54396555..54396555hg18UCSC 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 Variantsessv3574726
SamplesHuRef
Known GenesAURKA
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1000250
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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