A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646117



Internal ID7032862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:53555569..53562093hg38UCSC Ensembl
Innerchr20:53555619..53562043hg38UCSC Ensembl
Outerchr20:53555438..53562224hg38UCSC Ensembl
chr20:52172108..52178632hg19UCSC Ensembl
Innerchr20:52172158..52178582hg19UCSC Ensembl
Outerchr20:52171977..52178763hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg386525
hg196525
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16204588, essv16204589
SamplesNA19678, HG01923
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646117
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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