A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25790087



Internal ID19164868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:242969604..243095117hg38UCSC Ensembl
Innerchr1:243132906..243258419hg19UCSC Ensembl
Innerchr1:241199529..241325042hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38125514
hg19125514
hg18125514
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891281
Supporting Variants
Samples
Known GenesLOC731275
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=25
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25790087
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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