A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16123819



Internal ID2477780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:4748344..4749271hg38UCSC Ensembl
Innerchr20:4748382..4749233hg38UCSC Ensembl
Outerchr20:4748306..4749309hg38UCSC Ensembl
chr20:4728990..4729917hg19UCSC Ensembl
Innerchr20:4729028..4729879hg19UCSC Ensembl
Outerchr20:4728952..4729955hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38928
hg19928
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645081
Supporting Variants
SamplesHG02184
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16123819
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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