A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15243874



Internal ID5245690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:48397504..48409161hg38UCSC Ensembl
Innerchr15:48397504..48409161hg38UCSC Ensembl
Outerchr15:48397004..48409661hg38UCSC Ensembl
chr15:48689701..48701358hg19UCSC Ensembl
Innerchr15:48689701..48701358hg19UCSC Ensembl
Outerchr15:48689201..48701858hg19UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg3811658
hg1911658
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3636415
Supporting Variants
SamplesNA19159
Known GenesFBN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15243874
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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