A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422450



Internal ID1220215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:4467187..4614541hg38UCSC Ensembl
Innerchr3:4508871..4656225hg19UCSC Ensembl
Innerchr3:4483871..4631225hg18UCSC Ensembl
Innerchr3:4483871..4631225hg17UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg38147355
hg19147355
hg18147355
hg17147355
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5161263
SamplesND05029
Known GenesITPR1, ITPR1-AS1, SUMF1
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)esv2422450
Frequency
Sample Size181
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer