A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9747878



Internal ID18722124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:42651534..42652039hg38UCSC Ensembl
Outerchr12:42651437..42652143hg38UCSC Ensembl
Innerchr12:43045336..43045841hg19UCSC Ensembl
Outerchr12:43045239..43045945hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38707
hg19707
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3549131
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9747878
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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