A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6870730



Internal ID9920455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:11087710..11129580hg38UCSC Ensembl
Outerchr12:11240309..11282179hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3841871
hg1941871
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745547
Supporting Variants
SamplesSSM090
Known GenesPRH1-PRR4, 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)essv6870730
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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