A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6783553



Internal ID9840688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:11051232..11122537hg38UCSC Ensembl
Outerchr12:11203831..11275136hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3871306
hg1971306
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745547, esv2745549
Supporting Variants
SamplesSSM068
Known GenesPRH1-PRR4, 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)essv6783553
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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