A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722182



Internal ID10305818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:12074633..12075247hg38UCSC Ensembl
Outerchr20:12055281..12055895hg19UCSC Ensembl
Cytoband20p12.2
Allele length
AssemblyAllele length
hg38615
hg19615
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6668650
SamplesSSM030
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)esv2722182
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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