A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3557912



Internal ID18412302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:17801162..17801422hg38UCSC Ensembl
Outerchr22:17801094..17801492hg38UCSC Ensembl
Innerchr22:18283928..18284188hg19UCSC Ensembl
Outerchr22:18283860..18284258hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38399
hg19399
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9756659
Samples
Known GenesMICAL3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3557912
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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