A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9748210



Internal ID18375770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:79671721..79676720hg38UCSC Ensembl
Outerchr12:79671621..79676841hg38UCSC Ensembl
Innerchr12:80065501..80070500hg19UCSC Ensembl
Outerchr12:80065401..80070621hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg385221
hg195221
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3549463
Supporting Variants
Samples
Known GenesPAWR
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9748210
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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