A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3549240



Internal ID18403630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:54459772..54460019hg38UCSC Ensembl
Outerchr12:54459709..54460047hg38UCSC Ensembl
Innerchr12:54853556..54853803hg19UCSC Ensembl
Outerchr12:54853493..54853831hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38339
hg19339
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9747987
Samples
Known GenesGTSF1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3549240
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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