A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789396



Internal ID18821118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:184890647..184997882hg38UCSC Ensembl
Innerchr1:184859781..184967014hg19UCSC Ensembl
Innerchr1:183126404..183233637hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38107236
hg19107234
hg18107234
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3890815
Supporting Variants
Samples
Known GenesFAM129A
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=22
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789396
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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