A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15354133



Internal ID6472430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:101187713..101191362hg38UCSC Ensembl
Innerchr15:101187747..101191328hg38UCSC Ensembl
Outerchr15:101187679..101191396hg38UCSC Ensembl
chr15:101727918..101731567hg19UCSC Ensembl
Innerchr15:101727952..101731533hg19UCSC Ensembl
Outerchr15:101727884..101731601hg19UCSC Ensembl
Cytoband15q26.3
Allele length
AssemblyAllele length
hg383650
hg193650
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3637500
Supporting Variants
SamplesNA20520
Known GenesCHSY1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15354133
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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