A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25792642



Internal ID19178544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:105095292..105497444hg38UCSC Ensembl
Innerchr1:105637914..106040066hg19UCSC Ensembl
Innerchr1:105439437..105841589hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38402153
hg19402153
hg18402153
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893934
Supporting Variants
Samples
Known GenesMIR548H3
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=121
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25792642
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