A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv293e215



Internal ID22785803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:45789559..45789613hg38UCSC Ensembl
chr3:45831051..45831105hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3561821, esv3559589
Samples
Known GenesSLC6A20
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)dgv293e215
Frequency
Sample Size767
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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