A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747032



Internal ID3294984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132684673..132684945hg38UCSC Ensembl
Outerchr12:133261259..133261531hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38273
hg19273
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6936269
SamplesSSM021
Known GenesPOLE
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)esv2747032
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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