A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984254



Internal ID12976700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:24193462..24319562hg38UCSC Ensembl
Innerchr13:24767600..24893700hg19UCSC Ensembl
Innerchr13:23665600..23791700hg18UCSC Ensembl
Innerchr13:23665600..23791700hg17UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg38126101
hg19126101
hg18126101
hg17126101
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)essv6984254
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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