A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3558174



Internal ID18759250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:40196497..40203345hg38UCSC Ensembl
Outerchr22:40195497..40203996hg38UCSC Ensembl
Innerchr22:40592501..40599349hg19UCSC Ensembl
Outerchr22:40591501..40600000hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg388500
hg198500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9756921
Samples
Known GenesTNRC6B
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3558174
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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