A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8689551



Internal ID15094034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:20430385..20448083hg38UCSC Ensembl
Innerchr15:20431385..20447083hg38UCSC Ensembl
Outerchr15:20429385..20449083hg38UCSC Ensembl
chr15:20635638..20653336hg19UCSC Ensembl
Innerchr15:20636638..20652336hg19UCSC Ensembl
Outerchr15:20634638..20654336hg19UCSC Ensembl
chr15:18895652..18913350hg18UCSC Ensembl
Innerchr15:18896652..18912350hg18UCSC Ensembl
Outerchr15:18894652..18914350hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg3817699
hg1917699
hg1817699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3332532
Supporting Variants
SamplesNA19240
Known GenesHERC2P3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8689551
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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