A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422502



Internal ID3032126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:23329699..24956929hg19UCSC Ensembl
Innerchr13:22227699..23854929hg18UCSC Ensembl
Innerchr13:22227699..23854929hg17UCSC Ensembl
Cytoband13q12.12
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 Variantsessv5161478
SamplesND01934
Known GenesBASP1P1, C1QTNF9, C1QTNF9B, C1QTNF9B-AS1, LINC00327, MIPEP, MIR2276, SACS, SGCG, SPATA13, TNFRSF19
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)esv2422502
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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