A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2741053



Internal ID9975384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:42128864..42142651hg38UCSC Ensembl
Outerchr22:42524866..42538652hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3813788
hg1913787
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv733e201
Supporting Variantsessv6707128
SamplesSSM040
Known GenesCYP2D6, CYP2D7P
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2741053
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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