A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670489



Internal ID9589908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:49125709..49127882hg38UCSC Ensembl
Outerchr20:49125552..49128035hg38UCSC Ensembl
Innerchr20:47742246..47744419hg19UCSC Ensembl
Outerchr20:47742089..47744572hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg382484
hg192484
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6170696
SamplesHG00663
Known GenesSTAU1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670489
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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