A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6839517



Internal ID9892550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:23771159..23853703hg38UCSC Ensembl
Outerchr20:23751796..23834340hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg3882545
hg1982545
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722310, esv2722308, esv2722305
Supporting Variants
SamplesSSM083
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)essv6839517
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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