A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674768



Internal ID9940873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:123480313..123494401hg38UCSC Ensembl
Outerchr5:123480259..123494451hg38UCSC Ensembl
Innerchr5:122816007..122830095hg19UCSC Ensembl
Outerchr5:122815953..122830145hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg3814193
hg1914193
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6515942
SamplesNA18871
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674768
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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