A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25790566



Internal ID18831633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:185730915..186448352hg38UCSC Ensembl
Innerchr1:185700047..186417484hg19UCSC Ensembl
Innerchr1:183966670..184684107hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38717438
hg19717438
hg18717438
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3890826
Supporting Variants
Samples
Known GenesC1orf27, HMCN1, MIR548F1, OCLM, PDC, PRG4, RNU6-72P, TPR
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=80
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25790566
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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