A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3550096



Internal ID18751172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132758961..132759184hg38UCSC Ensembl
Outerchr12:132758905..132759230hg38UCSC Ensembl
Innerchr12:133335547..133335770hg19UCSC Ensembl
Outerchr12:133335491..133335816hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38326
hg19326
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9748843
Samples
Known GenesANKLE2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3550096
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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