A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745847



Internal ID9980131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:46640146..46641709hg38UCSC Ensembl
Outerchr12:47033929..47035492hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg381564
hg191564
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6787772
SamplesSSM069
Known Genes
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)esv2745847
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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