A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6874317



Internal ID9923681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:23765613..23846593hg38UCSC Ensembl
Outerchr20:23746250..23827230hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg3880981
hg1980981
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722308, esv2722305
Supporting Variants
SamplesSSM091
Known GenesCST2
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)essv6874317
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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