A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6913550



Internal ID9677822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:46576882..46577100hg38UCSC Ensembl
Outerchr20:45205521..45205739hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38219
hg19219
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722460
Supporting Variants
SamplesSSM015
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)essv6913550
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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