A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677623



Internal ID9597042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:52008826..52013609hg38UCSC Ensembl
Outerchr20:52008789..52013659hg38UCSC Ensembl
Innerchr20:50625365..50630148hg19UCSC Ensembl
Outerchr20:50625328..50630198hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg384871
hg194871
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5505299
SamplesHG00683
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677623
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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