A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678104



Internal ID9944209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:112928197..112944390hg38UCSC Ensembl
Outerchr5:112928040..112944543hg38UCSC Ensembl
Innerchr5:112263894..112280087hg19UCSC Ensembl
Outerchr5:112263737..112280240hg19UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg3816504
hg1916504
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6561856, essv5478111, essv5661576
SamplesNA20517, NA20796, HG00126
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678104
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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