A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25791564



Internal ID18821387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:182920870..185314087hg38UCSC Ensembl
Innerchr2:183785598..186178814hg19UCSC Ensembl
Innerchr2:183493843..185887059hg18UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg382393218
hg192393217
hg182393217
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893517
Supporting Variants
Samples
Known GenesDUSP19, NCKAP1, NUP35, ZNF804A
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=388
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25791564
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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