A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892198



Internal ID18836332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:47149024..47608617hg38UCSC Ensembl
Outerchr12:47149024..47608617hg38UCSC Ensembl
Innerchr12:47542807..48002400hg19UCSC Ensembl
Outerchr12:47542807..48002400hg19UCSC Ensembl
Innerchr12:45829074..46288667hg18UCSC Ensembl
Outerchr12:45829074..46288667hg18UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38459594
hg19459594
hg18459594
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25788764
Samples
Known GenesMIR4698, PCED1B, PCED1B-AS1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892198
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer