A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3553072



Internal ID18407462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:7229634..7229701hg38UCSC Ensembl
chr16:7279635..7279702hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9751819
Samples
Known GenesRBFOX1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3553072
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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