A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719992



Internal ID10303628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:43342022..43348419hg38UCSC Ensembl
Outerchr2:43569161..43575558hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg386398
hg196398
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6950866
SamplesSSM025
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)esv2719992
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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