A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719991



Internal ID10303627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:43245803..43246138hg38UCSC Ensembl
Outerchr2:43472942..43473277hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38336
hg19336
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6759288
SamplesSSM061
Known GenesTHADA
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)esv2719991
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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