A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6764459



Internal ID10172759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:198029614..198030134hg38UCSC Ensembl
Outerchr2:198894338..198894858hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38521
hg19521
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721340
Supporting Variants
SamplesSSM063
Known GenesPLCL1
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)essv6764459
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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