A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9748556



Internal ID18722802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:114460572..114463818hg38UCSC Ensembl
Outerchr12:114460406..114463882hg38UCSC Ensembl
Innerchr12:114898377..114901623hg19UCSC Ensembl
Outerchr12:114898211..114901687hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg383477
hg193477
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3549809
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9748556
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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