A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722498



Internal ID10306134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:50300936..50301411hg38UCSC Ensembl
Outerchr20:48917473..48917948hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg38476
hg19476
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6674627, essv6909719, essv6820741, essv6967286, essv6901301, essv6824544, essv6804162, essv6885680, essv6816222, essv6868268, essv6954234, essv6960824, essv6807053, essv6874337, essv6784547, essv6916987, essv6699342
SamplesSSM100, SSM027, SSM079, SSM038, SSM073, SSM074, SSM026, SSM089, SSM031, SSM014, SSM068, SSM078, SSM016, SSM077, SSM091, SSM095, SSM025
Known GenesLOC284751
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)esv2722498
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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