A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789315



Internal ID18832989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:22786139..23109672hg38UCSC Ensembl
Innerchr15:22763396..23086929hg19UCSC Ensembl
Innerchr15:20314760..20638370hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38323534
hg19323534
hg18323611
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892604
Supporting Variants
Samples
Known GenesCYFIP1, NIPA1, NIPA2, TUBGCP5
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=126
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789315
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