A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984255



Internal ID12976699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:24193509..24319556hg38UCSC Ensembl
Innerchr13:24767647..24893694hg19UCSC Ensembl
Innerchr13:23665647..23791694hg18UCSC Ensembl
Innerchr13:23665647..23791694hg17UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg38126048
hg19126048
hg18126048
hg17126048
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751137
Supporting Variants
SamplesBEC_681
Known GenesC1QTNF9, SPATA13, SPATA13-AS1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984255
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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