A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3550080



Internal ID18404470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132298817..132299743hg38UCSC Ensembl
Outerchr12:132298549..132299934hg38UCSC Ensembl
Innerchr12:132875403..132876329hg19UCSC Ensembl
Outerchr12:132875135..132876520hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg381386
hg191386
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9748827
Samples
Known GenesGALNT9
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3550080
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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