A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3558184



Internal ID18412574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:41852149..41852417hg38UCSC Ensembl
Outerchr22:41852147..41852421hg38UCSC Ensembl
Innerchr22:42248153..42248421hg19UCSC Ensembl
Outerchr22:42248151..42248425hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38275
hg19275
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9756931
Samples
Known GenesSREBF2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3558184
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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