A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16186590



Internal ID2221098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:40758890..40760417hg38UCSC Ensembl
Innerchr20:40758890..40760417hg38UCSC Ensembl
Outerchr20:40758842..40760467hg38UCSC Ensembl
chr20:39387530..39389057hg19UCSC Ensembl
Innerchr20:39387530..39389057hg19UCSC Ensembl
Outerchr20:39387482..39389107hg19UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg381528
hg191528
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645828
Supporting Variants
SamplesHG01992
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16186590
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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