A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9742177



Internal ID18369737
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 StatusS
Merged Variantsesv3543430
Supporting Variants
Samples
Known GenesCHRNB3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9742177
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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