A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3549772



Internal ID18404162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:111538872..111541572hg38UCSC Ensembl
Outerchr12:111538197..111542260hg38UCSC Ensembl
Innerchr12:111976676..111979376hg19UCSC Ensembl
Outerchr12:111976001..111980064hg19UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg384064
hg194064
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9748519
Samples
Known GenesATXN2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3549772
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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