A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6678698



Internal ID10092762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:1580400..1613518hg38UCSC Ensembl
Outerchr20:1561046..1594164hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3833119
hg1933119
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722072, esv2722071
Supporting Variants
SamplesSSM032
Known GenesSIRPB1
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)essv6678698
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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