A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16122364



Internal ID6124180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:4013528..4019142hg38UCSC Ensembl
Innerchr20:4013528..4019142hg38UCSC Ensembl
Outerchr20:4013028..4019642hg38UCSC Ensembl
chr20:3994175..3999789hg19UCSC Ensembl
Innerchr20:3994175..3999789hg19UCSC Ensembl
Outerchr20:3993675..4000289hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg385615
hg195615
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645065
Supporting Variants
SamplesHG02401
Known GenesRNF24
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16122364
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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