A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744500



Internal ID9978784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:48961803..48961970hg38UCSC Ensembl
Outerchr11:48983355..48983522hg19UCSC Ensembl
Cytoband11p11.12
Allele length
AssemblyAllele length
hg38168
hg19168
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6783439, essv6806271, essv6944779, essv6724373
SamplesSSM045, SSM074, SSM023, SSM068
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)esv2744500
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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