A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13128815



Internal ID3130631
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616490
Supporting Variants
SamplesNA19012
Known GenesPDGFRL, SLC7A2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13128815
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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