A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6835885



Internal ID10235592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:40843569..40875503hg38UCSC Ensembl
Outerchr19:41349474..41381408hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3831935
hg1931935
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718568
Supporting Variants
SamplesSSM082
Known GenesCYP2A6, CYP2A7
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6835885
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer