A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3558087



Internal ID18412477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:33360015..33363876hg38UCSC Ensembl
Outerchr22:33359015..33364514hg38UCSC Ensembl
Innerchr22:33756001..33759862hg19UCSC Ensembl
Outerchr22:33755001..33760500hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg385500
hg195500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9756834
Samples
Known GenesLARGE
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3558087
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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