A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25800946



Internal ID18826892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:200650582..200665177hg38UCSC Ensembl
Innerchr2:201515305..201529900hg19UCSC Ensembl
Innerchr2:201223550..201238145hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3814596
hg1914596
hg1814596
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893531
Supporting Variants
Samples
Known GenesAOX1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=9
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25800946
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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