A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720859



Internal ID10304495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:134592548..134593045hg38UCSC Ensembl
Outerchr2:135350118..135350615hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg38498
hg19498
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6859648, essv6920185
SamplesSSM088, SSM003
Known GenesTMEM163
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)esv2720859
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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