A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9748473



Internal ID18722719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:104976021..104979228hg38UCSC Ensembl
Outerchr12:104975220..104979870hg38UCSC Ensembl
Innerchr12:105369799..105373006hg19UCSC Ensembl
Outerchr12:105368998..105373648hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg384651
hg194651
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3549726
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9748473
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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