A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25783930



Internal ID18820467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:48792101..48921349hg38UCSC Ensembl
Innerchr3:48829534..48958782hg19UCSC Ensembl
Innerchr3:48804538..48933786hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38129249
hg19129249
hg18129249
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893694
Supporting Variants
Samples
Known GenesARIH2, ARIH2OS, PRKAR2A, SLC25A20
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=6
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25783930
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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