A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25793075



Internal ID18818170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:103705376..103815090hg38UCSC Ensembl
Innerchr12:104099154..104208868hg19UCSC Ensembl
Innerchr12:102623284..102732998hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38109715
hg19109715
hg18109715
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892262
Supporting Variants
Samples
Known GenesNT5DC3, STAB2
MethodSNP array
Analysis
PlatformIllumina HumanHap 550
CommentsNumber of probes=66
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25793075
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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