A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986345



Internal ID12628087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:24643768..24673148hg38UCSC Ensembl
Innerchr13:25217906..25247286hg19UCSC Ensembl
Innerchr13:24115906..24145286hg18UCSC Ensembl
Innerchr13:24115906..24145286hg17UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg3829381
hg1929381
hg1829381
hg1729381
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751140
Supporting Variants
SamplesBEC_539
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986345
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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