A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745163



Internal ID9979447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:123128168..123128605hg38UCSC Ensembl
Outerchr11:122998876..122999313hg19UCSC Ensembl
Cytoband11q24.1
Allele length
AssemblyAllele length
hg38438
hg19438
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6936056, essv6938518, essv6912528
SamplesSSM003, SSM021, SSM015
Known GenesCLMP
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)esv2745163
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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