A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422450



Internal ID3032211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:4508871..4656225hg19UCSC Ensembl
Innerchr3:4483871..4631225hg18UCSC Ensembl
Innerchr3:4483871..4631225hg17UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv5161263
SamplesND05029
Known GenesITPR1, SUMF1
Method
AnalysisRegion identical to calls - DGVa curated
PlatformIllumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)esv2422450
Frequency
Sample Size181
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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