A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789105



Internal ID18835560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:33412332..33479056hg38UCSC Ensembl
Innerchr2:33637399..33704123hg19UCSC Ensembl
Innerchr2:33490903..33557627hg18UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg3866725
hg1966725
hg1866725
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891725
Supporting Variants
Samples
Known GenesRASGRP3
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=40
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789105
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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