A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721338



Internal ID9955634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:197890831..197890975hg38UCSC Ensembl
Outerchr2:198755555..198755699hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38145
hg19145
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6669690, essv6700101
SamplesSSM031, SSM039
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)esv2721338
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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