A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8921867



Internal ID14520531
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 Flag1
Merged StatusS
Merged Variantsesv3388151
Supporting Variants
SamplesNA19114
Known GenesFAM198B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8921867
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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