A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3308436



Internal ID15155385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:117427387..117427388hg38UCSC Ensembl
Innerchr5:117427371..117427404hg38UCSC Ensembl
Outerchr5:117427370..117427405hg38UCSC Ensembl
chr5:116763083..116763084hg19UCSC Ensembl
Innerchr5:116763067..116763100hg19UCSC Ensembl
Outerchr5:116763066..116763101hg19UCSC Ensembl
chr5:116790982..116790983hg18UCSC Ensembl
Innerchr5:116790999..116790966hg18UCSC Ensembl
Outerchr5:116790965..116791000hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38298
hg19298
hg18298
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7842931, essv7841664
SamplesNA19239, NA19240
Known GenesLINC00992
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3308436
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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