A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3553306



Internal ID18754382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:29256852..29256933hg38UCSC Ensembl
chr16:29268173..29268254hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9752053
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3553306
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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