A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6702428



Internal ID9767464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:11019135..11074760hg38UCSC Ensembl
Outerchr12:11171734..11227359hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3855626
hg1955626
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745546
Supporting Variants
SamplesSSM039
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)essv6702428
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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