A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616490



Internal ID6656686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:17490532..17587102hg38UCSC Ensembl
chr8:17348041..17444611hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3896571
hg1996571
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13128815
SamplesNA19012
Known GenesPDGFRL, SLC7A2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616490
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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