A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6685933



Internal ID10099926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:40843621..40875506hg38UCSC Ensembl
Outerchr19:41349526..41381411hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3831886
hg1931886
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718568
Supporting Variants
SamplesSSM034
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)essv6685933
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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