A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3562648



Internal ID18417038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:3181807..3181925hg38UCSC Ensembl
chr1:3098371..3098489hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38119
hg19119
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9761395
Samples
Known GenesPRDM16
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3562648
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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