A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675812



Internal ID9941917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:152751634..152754717hg38UCSC Ensembl
Outerchr5:152751597..152754767hg38UCSC Ensembl
Innerchr5:152131194..152134277hg19UCSC Ensembl
Outerchr5:152131157..152134327hg19UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg383171
hg193171
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5414738
SamplesNA18563
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675812
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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