A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8689528



Internal ID14747213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:20013385..20429183hg38UCSC Ensembl
Innerchr15:20014385..20428183hg38UCSC Ensembl
Outerchr15:20012385..20430183hg38UCSC Ensembl
chr15:20218638..20634436hg19UCSC Ensembl
Innerchr15:20219638..20633436hg19UCSC Ensembl
Outerchr15:20217638..20635436hg19UCSC Ensembl
chr15:18478652..18894450hg18UCSC Ensembl
Innerchr15:18479652..18893450hg18UCSC Ensembl
Outerchr15:18477652..18895450hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38415799
hg19415799
hg18415799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3429637
Supporting Variants
SamplesNA19240
Known GenesCHEK2P2, HERC2P3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8689528
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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