A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747378



Internal ID5058110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:49001397..49001546hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg19n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv6891409, essv6706351
SamplesSSM040, SSM097
Known GenesLPAR6, RB1
Method
Analysis
PlatformIllumina HiSeq2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2747378
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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