A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6732112



Internal ID9795695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:11091538..11133494hg38UCSC Ensembl
Outerchr12:11244137..11286093hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3841957
hg1941957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745551, esv2745547
Supporting Variants
SamplesSSM047
Known GenesPRH1-PRR4, TAS2R30, TAS2R43
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)essv6732112
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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