A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25792784



Internal ID18815860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132154873..132201281hg38UCSC Ensembl
Innerchr12:132639418..132685826hg19UCSC Ensembl
Innerchr12:131205371..131251779hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3846409
hg1946409
hg1846409
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892285
Supporting Variants
Samples
Known GenesGALNT9
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=12
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25792784
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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