A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6733056



Internal ID9796054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:48431406..48431613hg38UCSC Ensembl
Outerchr20:47060148..47060355hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg38208
hg19208
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722479, esv2722468, esv2722476
Supporting Variants
SamplesSSM047
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)essv6733056
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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