A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722458



Internal ID10306094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:46419855..46420330hg38UCSC Ensembl
Outerchr20:45048494..45048969hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38476
hg19476
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6753217, essv6937167
SamplesSSM057, SSM021
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)esv2722458
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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