A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6834776



Internal ID9659531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:11014850..11069152hg38UCSC Ensembl
Outerchr12:11167449..11221751hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3854303
hg1954303
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745546
Supporting Variants
SamplesSSM010
Known GenesPRH1-PRR4, TAS2R19, TAS2R31, 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)essv6834776
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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