A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25791787



Internal ID18834148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:45476180..46068871hg38UCSC Ensembl
Innerchr1:45941852..46534543hg19UCSC Ensembl
Innerchr1:45714439..46307130hg18UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38592692
hg19592692
hg18592692
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893512
Supporting Variants
Samples
Known GenesAKR1A1, CCDC163P, CCDC17, GPBP1L1, IPP, MAST2, MMACHC, NASP, PIK3R3, PRDX1, RPS15AP10, TESK2, TMEM69
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=67
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25791787
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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