A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719878



Internal ID10303514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:32259057..32262532hg38UCSC Ensembl
Outerchr2:32484126..32487601hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg383476
hg193476
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6764356
SamplesSSM063
Known GenesNLRC4
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)esv2719878
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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