A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6737495



Internal ID9800540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:142877792..142915854hg38UCSC Ensembl
Outerchr8:143959208..143997270hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3838063
hg1938063
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737938
Supporting Variants
SamplesSSM050
Known GenesCYP11B1, CYP11B2
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)essv6737495
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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