A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25785994



Internal ID19174511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:246026700..246320481hg38UCSC Ensembl
Innerchr1:246190002..246483783hg19UCSC Ensembl
Innerchr1:244256625..244550406hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38293782
hg19293782
hg18293782
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891348
Supporting Variants
Samples
Known GenesSMYD3
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=80
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25785994
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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