A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6877456



Internal ID10273192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:40844679..40876704hg38UCSC Ensembl
Outerchr19:41350584..41382609hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3832026
hg1932026
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718568
Supporting Variants
SamplesSSM092
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)essv6877456
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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