A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721871



Internal ID9956169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:239899129..239899424hg38UCSC Ensembl
Outerchr2:240838546..240838841hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38296
hg19296
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv642e201
Supporting Variantsessv6675683, essv6859785, essv6817168
SamplesSSM088, SSM032, SSM078
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)esv2721871
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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