A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694836



Internal ID15015031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:6447039..6448637hg38UCSC Ensembl
Innerchr5:6447637..6448039hg38UCSC Ensembl
Outerchr5:6446039..6449637hg38UCSC Ensembl
chr5:6447152..6448750hg19UCSC Ensembl
Innerchr5:6447750..6448152hg19UCSC Ensembl
Outerchr5:6446152..6449750hg19UCSC Ensembl
chr5:6500152..6501750hg18UCSC Ensembl
Innerchr5:6501152..6500750hg18UCSC Ensembl
Outerchr5:6499152..6502750hg18UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg381599
hg191599
hg181599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3417151
Supporting Variants
SamplesNA19238
Known GenesUBE2QL1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694836
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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