A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3558159



Internal ID18412549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:38472627..38473404hg38UCSC Ensembl
Outerchr22:38472442..38473453hg38UCSC Ensembl
Innerchr22:38868632..38869409hg19UCSC Ensembl
Outerchr22:38868447..38869458hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg381012
hg191012
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9756906
Samples
Known GenesKDELR3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3558159
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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