A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6681553



Internal ID9751010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:11020633..11121370hg38UCSC Ensembl
Outerchr12:11173232..11273969hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38100738
hg19100738
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740843
Supporting Variants
SamplesSSM033
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)essv6681553
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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