A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788277



Internal ID18827737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:125024464..125055560hg38UCSC Ensembl
Innerchr12:125509010..125540106hg19UCSC Ensembl
Innerchr12:124074963..124106059hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3831097
hg1931097
hg1831097
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892269
Supporting Variants
Samples
Known GenesBRI3BP
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=11
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788277
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