A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3549135



Internal ID18750211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:43260625..43260914hg38UCSC Ensembl
Outerchr12:43260579..43260999hg38UCSC Ensembl
Innerchr12:43654428..43654717hg19UCSC Ensembl
Outerchr12:43654382..43654802hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38421
hg19421
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9747882
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3549135
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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