A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893667



Internal ID18837801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:19470582..20214665hg38UCSC Ensembl
Outerchr3:19470582..20214665hg38UCSC Ensembl
Innerchr3:19512074..20256157hg19UCSC Ensembl
Outerchr3:19512074..20256157hg19UCSC Ensembl
Innerchr3:19487078..20231161hg18UCSC Ensembl
Outerchr3:19487078..20231161hg18UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg38744084
hg19744084
hg18744084
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25791105
Samples
Known GenesEFHB, KAT2B, KCNH8, PP2D1, RAB5A, SGOL1, SGOL1-AS1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893667
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