A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6858661



Internal ID10256279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63849903..63849968hg38UCSC Ensembl
Outerchr20:62481256..62481321hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722979, esv2722978
Supporting Variants
SamplesSSM087
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)essv6858661
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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