A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6810059



Internal ID9864771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:46576939..46577106hg38UCSC Ensembl
Outerchr20:45205578..45205745hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38168
hg19168
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722462, esv2722460
Supporting Variants
SamplesSSM075
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)essv6810059
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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