A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3385504



Internal ID14885786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:42140662..42142560hg38UCSC Ensembl
Innerchr15:42141560..42141662hg38UCSC Ensembl
Outerchr15:42139662..42143560hg38UCSC Ensembl
chr15:42432860..42434758hg19UCSC Ensembl
Innerchr15:42433758..42433860hg19UCSC Ensembl
Outerchr15:42431860..42435758hg19UCSC Ensembl
chr15:40220152..40222050hg18UCSC Ensembl
Innerchr15:40221152..40221050hg18UCSC Ensembl
Outerchr15:40219152..40223050hg18UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg381899
hg191899
hg181899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8689767
SamplesNA19239
Known GenesPLA2G4F
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3385504
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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