A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985679



Internal ID12974023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:45566335..45649830hg38UCSC Ensembl
Innerchr12:45960118..46043613hg19UCSC Ensembl
Innerchr12:44246385..44329880hg18UCSC Ensembl
Innerchr12:44246385..44329880hg17UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3883496
hg1983496
hg1883496
hg1783496
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751099
Supporting Variants
SamplesBEC_493
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985679
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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