A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25792571



Internal ID19171705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68518024..68585366hg38UCSC Ensembl
Innerchr4:69383742..69451084hg19UCSC Ensembl
Innerchr4:69066337..69133679hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3867343
hg1967343
hg1867343
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893944
Supporting Variants
Samples
Known GenesUGT2B17
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=19
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25792571
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