A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161263



Internal ID7905977
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 StatusS
Merged Variantsesv2422450
Supporting Variants
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)essv5161263
Frequency
Sample Size181
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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