A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25792902



Internal ID18816553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143538619..144572337hg38UCSC Ensembl
Innerchr1:149025760..149512609hg19UCSC Ensembl
Innerchr1:147292384..147779233hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg381033719
hg19486850
hg18486850
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3894189
Supporting Variants
Samples
Known GenesFCGR1C, LOC101929780, LOC388692, NBPF23
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=24
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25792902
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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