A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789715



Internal ID18825971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:45463239..45625553hg38UCSC Ensembl
Innerchr21:46883153..47045467hg19UCSC Ensembl
Innerchr21:45707581..45869895hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38162315
hg19162315
hg18162315
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893419
Supporting Variants
Samples
Known GenesCOL18A1, MIR6815, SLC19A1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=46
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789715
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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