A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422437



Internal ID3032288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:22772723..23990451hg19UCSC Ensembl
Innerchr13:21670723..22888451hg18UCSC Ensembl
Innerchr13:21670723..22888451hg17UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Duplication
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv5161249
SamplesND04240
Known GenesBASP1P1, SACS, SGCG
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)esv2422437
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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