A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6877427



Internal ID10273166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:15616245..15678011hg38UCSC Ensembl
Outerchr19:15727056..15788821hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg3861767
hg1961766
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718235
Supporting Variants
SamplesSSM092
Known GenesCYP4F12, CYP4F3, CYP4F8
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)essv6877427
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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