A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9747852



Internal ID18722098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:41281067..41281405hg38UCSC Ensembl
Outerchr12:41281027..41281427hg38UCSC Ensembl
Innerchr12:41674869..41675207hg19UCSC Ensembl
Outerchr12:41674829..41675229hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38401
hg19401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3549105
Supporting Variants
Samples
Known GenesPDZRN4
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9747852
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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