A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893512



Internal ID18837646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:45476180..46068871hg38UCSC Ensembl
Outerchr1:45476180..46068871hg38UCSC Ensembl
Innerchr1:45941852..46534543hg19UCSC Ensembl
Outerchr1:45941852..46534543hg19UCSC Ensembl
Innerchr1:45714439..46307130hg18UCSC Ensembl
Outerchr1:45714439..46307130hg18UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38592692
hg19592692
hg18592692
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25791787
Samples
Known GenesAKR1A1, CCDC163P, CCDC17, GPBP1L1, IPP, MAST2, MMACHC, NASP, PIK3R3, PRDX1, RPS15AP10, TESK2, TMEM69
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893512
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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