A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3553909



Internal ID18408299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:89649132..89649197hg38UCSC Ensembl
chr16:89715540..89715605hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9752656
Samples
Known GenesCHMP1A
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3553909
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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