A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6950050



Internal ID9707576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:46576920..46577111hg38UCSC Ensembl
Outerchr20:45205559..45205750hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38192
hg19192
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722462, esv2722460
Supporting Variants
SamplesSSM024
Known GenesSLC13A3
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)essv6950050
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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