A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645056



Internal ID7031807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:3859932..3861114hg38UCSC Ensembl
Innerchr20:3859971..3861076hg38UCSC Ensembl
Outerchr20:3859894..3861153hg38UCSC Ensembl
chr20:3840579..3841761hg19UCSC Ensembl
Innerchr20:3840618..3841723hg19UCSC Ensembl
Outerchr20:3840541..3841800hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg381183
hg191183
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16122248, essv16122249
SamplesHG01284, NA19117
Known GenesMAVS
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645056
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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