A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25790695



Internal ID18831400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:41410704..41454624hg38UCSC Ensembl
Innerchr21:42782631..42826551hg19UCSC Ensembl
Innerchr21:41704501..41748421hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3843921
hg1943921
hg1843921
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893413
Supporting Variants
Samples
Known GenesMX1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=22
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25790695
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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