A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3391123



Internal ID14891404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:158706366..158707864hg38UCSC Ensembl
Innerchr5:158706864..158707366hg38UCSC Ensembl
Outerchr5:158705366..158708864hg38UCSC Ensembl
chr5:158133374..158134872hg19UCSC Ensembl
Innerchr5:158133872..158134374hg19UCSC Ensembl
Outerchr5:158132374..158135872hg19UCSC Ensembl
chr5:158065952..158067450hg18UCSC Ensembl
Innerchr5:158066952..158066450hg18UCSC Ensembl
Outerchr5:158064952..158068450hg18UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8694626
SamplesNA19239
Known GenesEBF1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3391123
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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