A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721363



Internal ID10304999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:200832279..200840945hg38UCSC Ensembl
Outerchr2:201697002..201705668hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg388667
hg198667
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6875049
SamplesSSM092
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)esv2721363
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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