A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721837



Internal ID10305473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:239546831..239547651hg38UCSC Ensembl
Outerchr2:240468525..240469345hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38821
hg19821
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6973274, essv6801973, essv6753008
SamplesSSM008, SSM073, SSM029
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)esv2721837
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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