A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893839



Internal ID18837973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:186785646..186958667hg38UCSC Ensembl
Outerchr3:186785646..186958667hg38UCSC Ensembl
Innerchr3:186503435..186676455hg19UCSC Ensembl
Outerchr3:186503435..186676455hg19UCSC Ensembl
Innerchr3:187986129..188159149hg18UCSC Ensembl
Outerchr3:187986129..188159149hg18UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg38173022
hg19173021
hg18173021
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25788539
Samples
Known GenesADIPOQ, ADIPOQ-AS1, EIF4A2, MIR1248, RFC4, SNORA4, SNORA63, SNORA81, ST6GAL1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893839
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