A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694842



Internal ID15086618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:6829539..6831437hg38UCSC Ensembl
Innerchr5:6830437..6830539hg38UCSC Ensembl
Outerchr5:6828539..6832437hg38UCSC Ensembl
chr5:6829652..6831550hg19UCSC Ensembl
Innerchr5:6830550..6830652hg19UCSC Ensembl
Outerchr5:6828652..6832550hg19UCSC Ensembl
chr5:6882652..6884550hg18UCSC Ensembl
Innerchr5:6883652..6883550hg18UCSC Ensembl
Outerchr5:6881652..6885550hg18UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg381899
hg191899
hg181899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3444613
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694842
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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