A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676506



Internal ID9595925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:17578938..17589116hg38UCSC Ensembl
chr8:17436447..17446625hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3810179
hg1910179
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5426324, essv5971590
SamplesNA19835, NA20348
Known GenesPDGFRL
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676506
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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