A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6899121



Internal ID9665701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:11019470..11075250hg38UCSC Ensembl
Outerchr12:11172069..11227849hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3855781
hg1955781
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)essv6899121
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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