A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16175548



Internal ID522857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:33653604..33654781hg38UCSC Ensembl
Innerchr20:33653604..33654781hg38UCSC Ensembl
Outerchr20:33653274..33655127hg38UCSC Ensembl
chr20:32241410..32242587hg19UCSC Ensembl
Innerchr20:32241410..32242587hg19UCSC Ensembl
Outerchr20:32241080..32242933hg19UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg381178
hg191178
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645686
Supporting Variants
SamplesHG00188
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16175548
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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