A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3388151



Internal ID14888434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:158137294..158137318hg38UCSC Ensembl
Innerchr4:158137297..158137312hg38UCSC Ensembl
Outerchr4:158137273..158137336hg38UCSC Ensembl
chr4:159058446..159058470hg19UCSC Ensembl
Innerchr4:159058449..159058464hg19UCSC Ensembl
Outerchr4:159058425..159058488hg19UCSC Ensembl
chr4:159277896..159277920hg18UCSC Ensembl
Innerchr4:159277914..159277899hg18UCSC Ensembl
Outerchr4:159277875..159277938hg18UCSC Ensembl
Cytoband4q32.1
Allele length
AssemblyAllele length
hg38238
hg19238
hg18238
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8921871, essv8921866, essv8921868, essv8921867, essv8921872, essv8921870
SamplesNA18508, NA18504, NA19138, NA19114, NA19108, NA19147
Known GenesFAM198B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3388151
Frequency
Sample Size185
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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