A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6819663



Internal ID9872617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:11029287..11060216hg38UCSC Ensembl
Outerchr12:11181886..11212815hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3830930
hg1930930
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745547, esv2745546
Supporting Variants
SamplesSSM078
Known GenesPRH1-PRR4, TAS2R31
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)essv6819663
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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