A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722074



Internal ID10305710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:1604818..1636346hg38UCSC Ensembl
Outerchr20:1585464..1616992hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3831529
hg1931529
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6945960
SamplesSSM023
Known GenesSIRPB1, SIRPG
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)esv2722074
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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