A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3550091



Internal ID18751167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132563765..132563902hg38UCSC Ensembl
Outerchr12:132563741..132563931hg38UCSC Ensembl
Innerchr12:133140351..133140488hg19UCSC Ensembl
Outerchr12:133140327..133140517hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38191
hg19191
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9748838
Samples
Known GenesFBRSL1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3550091
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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