A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721340



Internal ID10304976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:198029584..198030134hg38UCSC Ensembl
Outerchr2:198894308..198894858hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38551
hg19551
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6669691, essv6864511, essv6853911, essv6759380, essv6764459
SamplesSSM087, SSM061, SSM089, SSM031, SSM063
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)esv2721340
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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