A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16196967



Internal ID479821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:47483484..47488052hg38UCSC Ensembl
Innerchr20:47483484..47488052hg38UCSC Ensembl
Outerchr20:47483230..47488306hg38UCSC Ensembl
chr20:46112228..46116796hg19UCSC Ensembl
Innerchr20:46112228..46116796hg19UCSC Ensembl
Outerchr20:46111974..46117050hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg384569
hg194569
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645970
Supporting Variants
SamplesHG00158
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16196967
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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