A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984253



Internal ID12976701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:24190761..24305762hg38UCSC Ensembl
Innerchr13:24764900..24879900hg19UCSC Ensembl
Innerchr13:23662900..23777900hg18UCSC Ensembl
Innerchr13:23662900..23777900hg17UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg38115002
hg19115001
hg18115001
hg17115001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751137
Supporting Variants
SamplesBEC_681
Known GenesSPATA13, SPATA13-AS1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984253
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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