A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6874542



Internal ID9663718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:40948288..41015977hg38UCSC Ensembl
Outerchr19:41454193..41521882hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3867690
hg1967690
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718571, esv2718572
Supporting Variants
SamplesSSM011
Known GenesCYP2B6, CYP2B7P
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)essv6874542
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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