A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9755148



Internal ID18729394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:40856596..40881097hg38UCSC Ensembl
Outerchr19:40849778..40885095hg38UCSC Ensembl
Innerchr19:41362501..41387002hg19UCSC Ensembl
Outerchr19:41355683..41391000hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3835318
hg1935318
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3556401
Supporting Variants
Samples
Known GenesCYP2A6, CYP2A7
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9755148
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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