A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5517466



Internal ID8972240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:60087961..60088417hg38UCSC Ensembl
Outerchr20:60087540..60088837hg38UCSC Ensembl
Innerchr20:58663016..58663472hg19UCSC Ensembl
Outerchr20:58662595..58663892hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg381298
hg191298
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv2678460
Supporting Variants
SamplesHG00543
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5517466
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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