A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3543430



Internal ID18397820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:42730770..42731094hg38UCSC Ensembl
Outerchr8:42730709..42731114hg38UCSC Ensembl
Innerchr8:42585913..42586237hg19UCSC Ensembl
Outerchr8:42585852..42586257hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg38406
hg19406
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9742177
Samples
Known GenesCHRNB3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3543430
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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