A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722410



Internal ID10306046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:39708667..39709723hg38UCSC Ensembl
Outerchr20:38337309..38338365hg19UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg381057
hg191057
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6666250, essv6744630, essv6858587, essv6863463, essv6763926, essv6738517, essv6877343, essv6741807, essv6735755, essv6960815, essv6909714, essv6820733, essv6766270
SamplesSSM087, SSM050, SSM088, SSM092, SSM029, SSM062, SSM026, SSM014, SSM078, SSM053, SSM052, SSM049, SSM063
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)esv2722410
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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