A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6905953



Internal ID9669837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:42127577..42141301hg38UCSC Ensembl
Outerchr22:42523579..42537311hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3813725
hg1913733
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724275
Supporting Variants
SamplesSSM013
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)essv6905953
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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