A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694550



Internal ID15045313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:10267140..10268238hg38UCSC Ensembl
Innerchr5:10267238..10268140hg38UCSC Ensembl
Outerchr5:10266140..10269238hg38UCSC Ensembl
chr5:10267252..10268350hg19UCSC Ensembl
Innerchr5:10267350..10268252hg19UCSC Ensembl
Outerchr5:10266252..10269350hg19UCSC Ensembl
chr5:10320252..10321350hg18UCSC Ensembl
Innerchr5:10321252..10320350hg18UCSC Ensembl
Outerchr5:10319252..10322350hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg381099
hg191099
hg181099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3350529
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694550
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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