A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3558040



Internal ID18412430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:29237339..29239266hg38UCSC Ensembl
Outerchr22:29237018..29239617hg38UCSC Ensembl
Innerchr22:29633328..29635255hg19UCSC Ensembl
Outerchr22:29633007..29635606hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg382600
hg192600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9756787
Samples
Known GenesEMID1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3558040
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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