A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745260



Internal ID10326230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:130532305..130532848hg38UCSC Ensembl
Outerchr11:130402200..130402743hg19UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg38544
hg19544
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6862314, essv6977068
SamplesSSM088, 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)esv2745260
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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