A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3558086



Internal ID18412476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:33355638..33355778hg38UCSC Ensembl
Outerchr22:33355629..33355780hg38UCSC Ensembl
Innerchr22:33751624..33751764hg19UCSC Ensembl
Outerchr22:33751615..33751766hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38152
hg19152
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9756833
Samples
Known GenesLARGE
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3558086
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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