A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788764



Internal ID18832761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:47149024..47608617hg38UCSC Ensembl
Innerchr12:47542807..48002400hg19UCSC Ensembl
Innerchr12:45829074..46288667hg18UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38459594
hg19459594
hg18459594
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892198
Supporting Variants
Samples
Known GenesMIR4698, PCED1B, PCED1B-AS1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=112
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788764
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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