A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9747898



Internal ID18722144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:45482421..45482461hg38UCSC Ensembl
Outerchr12:45482415..45482467hg38UCSC Ensembl
Innerchr12:45876204..45876244hg19UCSC Ensembl
Outerchr12:45876198..45876250hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3549151
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9747898
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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