A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16204589



Internal ID6142528
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646117
Supporting Variants
SamplesNA19678
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16204589
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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