A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789826



Internal ID19174430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:90101121..90406830hg38UCSC Ensembl
Innerchr1:90566679..90872387hg19UCSC Ensembl
Innerchr1:90339267..90644975hg18UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg38305710
hg19305709
hg18305709
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893812
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=82
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789826
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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