A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3558161



Internal ID18412551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:38666192..38666262hg38UCSC Ensembl
chr22:39062197..39062267hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9756908
Samples
Known GenesCBY1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3558161
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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