A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5289n100



Internal ID22791376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:68581715..68674295hg38UCSC Ensembl
chr4:69447433..69540013hg19UCSC Ensembl
chr4:69130028..69222608hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3892581
hg1992581
hg1892581
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1013696, nsv1012107, nsv1005363, nsv1009591
Samples
Known GenesUGT2B15
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5289n100
Frequency
Sample Size11257
Observed Gain28
Observed Loss8
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer