A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv281e215



Internal ID20151320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:19112370..19113162hg38UCSC Ensembl
chr22:19099883..19100675hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38793
hg19793
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3557926, esv3557927
Samples
Known GenesDGCR2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)dgv281e215
Frequency
Sample Size767
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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