A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16196145



Internal ID3542001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:45234868..45236226hg38UCSC Ensembl
Innerchr20:45234870..45236225hg38UCSC Ensembl
Outerchr20:45234867..45236228hg38UCSC Ensembl
chr20:43863509..43864867hg19UCSC Ensembl
Innerchr20:43863511..43864866hg19UCSC Ensembl
Outerchr20:43863508..43864869hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg381359
hg191359
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645925
Supporting Variants
SamplesHG03129
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16196145
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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