A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6864511



Internal ID10261542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:198029831..198029928hg38UCSC Ensembl
Outerchr2:198894555..198894652hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721342, esv2721340
Supporting Variants
SamplesSSM089
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)essv6864511
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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