A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988776



Internal ID12976690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:24152887..24335614hg38UCSC Ensembl
Innerchr13:24727026..24909752hg19UCSC Ensembl
Innerchr13:23625026..23807752hg18UCSC Ensembl
Innerchr13:23625026..23807752hg17UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg38182728
hg19182727
hg18182727
hg17182727
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751137
Supporting Variants
SamplesBEC_681
Known GenesC1QTNF9, MIR2276, SPATA13, SPATA13-AS1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988776
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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