A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6581986



Internal ID9192712
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 StatusS
Merged Variantsesv2666589
Supporting Variants
SamplesHG01489
Known GenesPOLR3G
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6581986
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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