A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645942



Internal ID6686002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:45849473..45851268hg38UCSC Ensembl
Innerchr20:45849487..45851255hg38UCSC Ensembl
Outerchr20:45849460..45851282hg38UCSC Ensembl
chr20:44478112..44479907hg19UCSC Ensembl
Innerchr20:44478126..44479894hg19UCSC Ensembl
Outerchr20:44478099..44479921hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg381796
hg191796
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16196563
SamplesNA20510
Known GenesACOT8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645942
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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