A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7746481



Internal ID14361128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:3509704..3509705hg38UCSC Ensembl
Innerchr5:3509674..3509735hg38UCSC Ensembl
Outerchr5:3509673..3509736hg38UCSC Ensembl
chr5:3509818..3509819hg19UCSC Ensembl
Innerchr5:3509788..3509849hg19UCSC Ensembl
Outerchr5:3509787..3509850hg19UCSC Ensembl
chr5:3562818..3562819hg18UCSC Ensembl
Innerchr5:3562849..3562788hg18UCSC Ensembl
Outerchr5:3562787..3562850hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38288
hg19288
hg18288
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3304454
Supporting Variants
SamplesNA18858
Known GenesLINC01019
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7746481
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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