A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6753217



Internal ID10161135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:46419870..46420330hg38UCSC Ensembl
Outerchr20:45048509..45048969hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38461
hg19461
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722458
Supporting Variants
SamplesSSM057
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)essv6753217
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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