A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3553044



Internal ID18754120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:4720176..4722261hg38UCSC Ensembl
Outerchr16:4719906..4722492hg38UCSC Ensembl
Innerchr16:4770177..4772262hg19UCSC Ensembl
Outerchr16:4769907..4772493hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg382587
hg192587
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9751791
Samples
Known GenesANKS3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3553044
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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