A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6899110



Internal ID9665702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:11019269..11074828hg38UCSC Ensembl
Outerchr12:11171868..11227427hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3855560
hg1955560
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745546
Supporting Variants
SamplesSSM012
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)essv6899110
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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