A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3557124



Internal ID18411514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:45906782..45907131hg38UCSC Ensembl
Outerchr20:45906706..45907181hg38UCSC Ensembl
Innerchr20:44535421..44535770hg19UCSC Ensembl
Outerchr20:44535345..44535820hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38476
hg19476
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9755871
Samples
Known GenesPLTP
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3557124
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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