A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6755536



Internal ID9815286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:11097955..11137646hg38UCSC Ensembl
Outerchr12:11250554..11290245hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3839692
hg1939692
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745551
Supporting Variants
SamplesSSM058
Known GenesPRH1-PRR4, TAS2R30
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)essv6755536
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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