A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3557909



Internal ID18412299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:17713631..17715356hg38UCSC Ensembl
Outerchr22:17713595..17715473hg38UCSC Ensembl
Innerchr22:18196397..18198122hg19UCSC Ensembl
Outerchr22:18196361..18198239hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg381879
hg191879
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9756656
Samples
Known GenesBCL2L13
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3557909
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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