A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8689571



Internal ID15054016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:20499085..20502483hg38UCSC Ensembl
Innerchr15:20500085..20501483hg38UCSC Ensembl
Outerchr15:20498085..20503483hg38UCSC Ensembl
chr15:20704338..20707736hg19UCSC Ensembl
Innerchr15:20705338..20706736hg19UCSC Ensembl
Outerchr15:20703338..20708736hg19UCSC Ensembl
chr15:18964352..18967750hg18UCSC Ensembl
Innerchr15:18965352..18966750hg18UCSC Ensembl
Outerchr15:18963352..18968750hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg383399
hg193399
hg183399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3351970
Supporting Variants
SamplesNA19239
Known GenesHERC2P3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8689571
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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