A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893694



Internal ID18837828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:48792101..48921349hg38UCSC Ensembl
Outerchr3:48792101..48921349hg38UCSC Ensembl
Innerchr3:48829534..48958782hg19UCSC Ensembl
Outerchr3:48829534..48958782hg19UCSC Ensembl
Innerchr3:48804538..48933786hg18UCSC Ensembl
Outerchr3:48804538..48933786hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38129249
hg19129249
hg18129249
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25783930
Samples
Known GenesARIH2, ARIH2OS, PRKAR2A, SLC25A20
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893694
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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