A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3548519



Internal ID18749595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:130095877..130095971hg38UCSC Ensembl
chr11:129965772..129965866hg19UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg3895
hg1995
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9747266
Samples
Known GenesAPLP2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3548519
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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