A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722507



Internal ID10306143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:51321485..51322172hg38UCSC Ensembl
Outerchr20:49938022..49938709hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg38688
hg19688
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6696557, essv6971804, essv6773007, essv6784549, essv6960825, essv6717729
SamplesSSM065, SSM028, SSM026, SSM068, SSM037, SSM043
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)esv2722507
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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