A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6912046



Internal ID9675621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:142877769..142915792hg38UCSC Ensembl
Outerchr8:143959185..143997208hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3838024
hg1938024
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737938
Supporting Variants
SamplesSSM015
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)essv6912046
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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