A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv301e215



Internal ID22785811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:130413140..130414103hg38UCSC Ensembl
chr3:130131984..130132947hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg38964
hg19964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3562535, esv3562536
Samples
Known GenesCOL6A5
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)dgv301e215
Frequency
Sample Size767
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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