A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743089



Internal ID9977373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:11020641..11121370hg38UCSC Ensembl
Outerchr12:11173240..11273969hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38100730
hg19100730
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv172e201
Supporting Variantsessv6944923
SamplesSSM023
Known GenesPRH1-PRR4, TAS2R19, 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)esv2743089
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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