A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6865432



Internal ID9664162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:11048646..11077697hg38UCSC Ensembl
Outerchr12:11201245..11230296hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3829052
hg1929052
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745547
Supporting Variants
SamplesSSM011
Known GenesPRH1-PRR4, 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)essv6865432
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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