A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16173851



Internal ID6175667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:32563967..32568441hg38UCSC Ensembl
Innerchr20:32564017..32568391hg38UCSC Ensembl
Outerchr20:32563917..32568491hg38UCSC Ensembl
chr20:31151769..31156243hg19UCSC Ensembl
Innerchr20:31151819..31156193hg19UCSC Ensembl
Outerchr20:31151719..31156293hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg384475
hg194475
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645667
Supporting Variants
SamplesHG01841
Known GenesC20orf112
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16173851
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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