A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645928



Internal ID7032675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:45310422..45318758hg38UCSC Ensembl
chr20:43939062..43947398hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg388337
hg198337
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16196156, essv16196154, essv16196155, essv16196157
SamplesHG03808, HG03663, HG03624, HG03708
Known GenesRBPJL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645928
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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