A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6791845



Internal ID9849104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:11029150..11131964hg38UCSC Ensembl
Outerchr12:11181749..11284563hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38102815
hg19102815
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745547
Supporting Variants
SamplesSSM070
Known GenesPRH1-PRR4, 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)essv6791845
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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