A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13128814



Internal ID3130630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:17490020..17737549hg38UCSC Ensembl
Innerchr8:17490031..17737539hg38UCSC Ensembl
Outerchr8:17490010..17737560hg38UCSC Ensembl
chr8:17347529..17595058hg19UCSC Ensembl
Innerchr8:17347540..17595048hg19UCSC Ensembl
Outerchr8:17347519..17595069hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38247530
hg19247530
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616489
Supporting Variants
SamplesNA19012
Known GenesMTUS1, PDGFRL, SLC7A2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13128814
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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