A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3890826



Internal ID18838442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:185730915..186448352hg38UCSC Ensembl
Outerchr1:185730915..186448352hg38UCSC Ensembl
Innerchr1:185700047..186417484hg19UCSC Ensembl
Outerchr1:185700047..186417484hg19UCSC Ensembl
Innerchr1:183966670..184684107hg18UCSC Ensembl
Outerchr1:183966670..184684107hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38717438
hg19717438
hg18717438
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25790566
Samples
Known GenesC1orf27, HMCN1, MIR548F1, OCLM, PDC, PRG4, RNU6-72P, TPR
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3890826
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer