A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722044



Internal ID3272540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:984917..985085hg38UCSC Ensembl
Outerchr20:965560..965728hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38169
hg19169
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6839480, essv6832135
SamplesSSM083, SSM081
Known GenesRSPO4
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)esv2722044
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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