A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722165



Internal ID10305801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:9168635..9169216hg38UCSC Ensembl
Outerchr20:9149282..9149863hg19UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg38582
hg19582
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6932827, essv6804134, essv6937133, essv6945976, essv6877329
SamplesSSM073, SSM023, SSM092, SSM021, SSM020
Known GenesPLCB4
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)esv2722165
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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