A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3544372



Internal ID18398762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:142880210..142915635hg38UCSC Ensembl
Outerchr8:142877708..142916066hg38UCSC Ensembl
Innerchr8:143961626..143997051hg19UCSC Ensembl
Outerchr8:143959124..143997482hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3838359
hg1938359
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9743119
Samples
Known GenesCYP11B1, CYP11B2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3544372
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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