A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6967284



Internal ID9725435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:47895425..47895482hg38UCSC Ensembl
Outerchr20:46524169..46524226hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722468, esv2722470
Supporting Variants
SamplesSSM027
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)essv6967284
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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