A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720026



Internal ID10303662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:47610961..47615512hg38UCSC Ensembl
Outerchr2:47838100..47842651hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg384552
hg194552
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6718465
SamplesSSM044
Known Genes
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)esv2720026
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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