A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16119033



Internal ID6120849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:2096952..2099030hg38UCSC Ensembl
Innerchr20:2096952..2099030hg38UCSC Ensembl
Outerchr20:2096680..2099290hg38UCSC Ensembl
chr20:2077598..2079676hg19UCSC Ensembl
Innerchr20:2077598..2079676hg19UCSC Ensembl
Outerchr20:2077326..2079936hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg382079
hg192079
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644996
Supporting Variants
SamplesHG03548
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16119033
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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