A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6713154



Internal ID9637209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:63146493..63268851hg38UCSC Ensembl
Outerchr11:62913965..63036323hg19UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg38122359
hg19122359
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744609
Supporting Variants
SamplesSSM001
Known GenesMIR3680-1, MIR3680-2, SLC22A25
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)essv6713154
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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