A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25793041



Internal ID19167493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:105387199..105542548hg38UCSC Ensembl
Innerchr7:105027646..105182995hg19UCSC Ensembl
Innerchr7:104814882..104970231hg18UCSC Ensembl
Cytoband7q22.2
Allele length
AssemblyAllele length
hg38155350
hg19155350
hg18155350
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891174
Supporting Variants
Samples
Known GenesPUS7, RINT1, SRPK2
MethodSNP array
Analysis
PlatformIllumina HumanHap 550
CommentsNumber of probes=22
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25793041
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