A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3543429



Internal ID18397819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:42717106..42717394hg38UCSC Ensembl
Outerchr8:42717033..42717442hg38UCSC Ensembl
Innerchr8:42572249..42572537hg19UCSC Ensembl
Outerchr8:42572176..42572585hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg38410
hg19410
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9742176
Samples
Known GenesCHRNB3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3543429
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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