A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892285



Internal ID18836419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132154873..132201281hg38UCSC Ensembl
Outerchr12:132154873..132201281hg38UCSC Ensembl
Innerchr12:132639418..132685826hg19UCSC Ensembl
Outerchr12:132639418..132685826hg19UCSC Ensembl
Innerchr12:131205371..131251779hg18UCSC Ensembl
Outerchr12:131205371..131251779hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3846409
hg1946409
hg1846409
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25792784
Samples
Known GenesGALNT9
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892285
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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