A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3548550



Internal ID18402940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:133170493..133170550hg38UCSC Ensembl
chr11:133040388..133040445hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9747297
Samples
Known GenesOPCML
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3548550
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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