A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25793065



Internal ID19176726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:27821143..28105945hg38UCSC Ensembl
Innerchr7:27860762..28145564hg19UCSC Ensembl
Innerchr7:27827287..28112089hg18UCSC Ensembl
Cytoband7p15.1
Allele length
AssemblyAllele length
hg38284803
hg19284803
hg18284803
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891091
Supporting Variants
Samples
Known GenesJAZF1, TAX1BP1
MethodSNP array
Analysis
PlatformIllumina HumanHap 550
CommentsNumber of probes=92
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25793065
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