A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6865499



Internal ID9664013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:11021824..11133507hg38UCSC Ensembl
Outerchr12:11174423..11286106hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38111684
hg19111684
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745547
Supporting Variants
SamplesSSM011
Known GenesPRH1-PRR4, TAS2R19, TAS2R30, TAS2R31, TAS2R43, TAS2R46
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)essv6865499
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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