A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788903



Internal ID18816792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:115561331..116511101hg38UCSC Ensembl
Innerchr7:115201385..116151155hg19UCSC Ensembl
Innerchr7:114988621..115938391hg18UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg38949771
hg19949771
hg18949771
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891195
Supporting Variants
Samples
Known GenesCAV2, TES, TFEC
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=141
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788903
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