A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745960



Internal ID9980244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:61820873..61822176hg38UCSC Ensembl
Outerchr12:62214654..62215957hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg381304
hg191304
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6735211
SamplesSSM049
Known GenesFAM19A2
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)esv2745960
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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