A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16142635



Internal ID743695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:11063840..11080758hg38UCSC Ensembl
Innerchr20:11063840..11080758hg38UCSC Ensembl
Outerchr20:11063340..11081258hg38UCSC Ensembl
chr20:11044488..11061406hg19UCSC Ensembl
Innerchr20:11044488..11061406hg19UCSC Ensembl
Outerchr20:11043988..11061906hg19UCSC Ensembl
Cytoband20p12.2
Allele length
AssemblyAllele length
hg3816919
hg1916919
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645216
Supporting Variants
SamplesHG00350
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16142635
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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