A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161261



Internal ID7905975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:63515793..63664263hg38UCSC Ensembl
Innerchr3:63501469..63649939hg19UCSC Ensembl
Innerchr3:63476509..63624979hg18UCSC Ensembl
Innerchr3:63476509..63624979hg17UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg38148471
hg19148471
hg18148471
hg17148471
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422509
Supporting Variants
SamplesND04575
Known GenesSNTN, SYNPR, SYNPR-AS1
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)essv5161261
Frequency
Sample Size181
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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