A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666589



Internal ID9932694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:90500590..90502149hg38UCSC Ensembl
Outerchr5:90500553..90502199hg38UCSC Ensembl
Innerchr5:89796407..89797966hg19UCSC Ensembl
Outerchr5:89796370..89798016hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg381647
hg191647
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6581986
SamplesHG01489
Known GenesPOLR3G
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666589
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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