A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745468



Internal ID10326438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:6245854..6248194hg38UCSC Ensembl
Outerchr12:6355020..6357360hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg382341
hg192341
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6977111
SamplesSSM029
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)esv2745468
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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