A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3548780



Internal ID18749856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:12864071..12864952hg38UCSC Ensembl
Outerchr12:12863910..12865040hg38UCSC Ensembl
Innerchr12:13017005..13017886hg19UCSC Ensembl
Outerchr12:13016844..13017974hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg381131
hg191131
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9747527
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3548780
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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