A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv104e215



Internal ID22785614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:42181778..42182099hg38UCSC Ensembl
chr13:42755914..42756235hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3550375, esv3550374
Samples
Known GenesDGKH
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)dgv104e215
Frequency
Sample Size767
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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