A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3542152



Internal ID18743228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:99863766..99865631hg38UCSC Ensembl
Outerchr7:99863758..99865939hg38UCSC Ensembl
Innerchr7:99461389..99463254hg19UCSC Ensembl
Outerchr7:99461381..99463562hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg382182
hg192182
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9740899
Samples
Known GenesCYP3A43
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3542152
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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