A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721876



Internal ID10305512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:239914579..239914664hg38UCSC Ensembl
Outerchr2:240853996..240854081hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6864571
SamplesSSM089
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)esv2721876
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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