A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3393258



Internal ID15240223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:20480785..20481983hg38UCSC Ensembl
Innerchr15:20480983..20481785hg38UCSC Ensembl
Outerchr15:20479785..20482983hg38UCSC Ensembl
chr15:20686038..20687236hg19UCSC Ensembl
Innerchr15:20686236..20687038hg19UCSC Ensembl
Outerchr15:20685038..20688236hg19UCSC Ensembl
chr15:18946052..18947250hg18UCSC Ensembl
Innerchr15:18947052..18946250hg18UCSC Ensembl
Outerchr15:18945052..18948250hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8689566
SamplesNA19239
Known GenesHERC2P3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3393258
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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