A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6839791



Internal ID9889382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:42125969..42139736hg38UCSC Ensembl
Outerchr22:42521974..42535747hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3813768
hg1913774
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724275
Supporting Variants
SamplesSSM083
Known GenesCYP2D6
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)essv6839791
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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