A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307783



Internal ID14808045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:158137302..158137303hg38UCSC Ensembl
Innerchr4:158137269..158137336hg38UCSC Ensembl
Outerchr4:158137268..158137337hg38UCSC Ensembl
chr4:159058454..159058455hg19UCSC Ensembl
Innerchr4:159058421..159058488hg19UCSC Ensembl
Outerchr4:159058420..159058489hg19UCSC Ensembl
chr4:159277904..159277905hg18UCSC Ensembl
Innerchr4:159277938..159277871hg18UCSC Ensembl
Outerchr4:159277870..159277939hg18UCSC Ensembl
Cytoband4q32.1
Allele length
AssemblyAllele length
hg38252
hg19252
hg18252
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7746639, essv7745379, essv7740480, essv7755415, essv7759028, essv7747044
SamplesNA19114, NA19108, NA19147, NA18508, NA18504, NA19138
Known GenesFAM198B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307783
Frequency
Sample Size185
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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