A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751099



Internal ID12984651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:45566335..45649850hg38UCSC Ensembl
Innerchr12:45960118..46043633hg19UCSC Ensembl
Innerchr12:44246385..44329900hg18UCSC Ensembl
Innerchr12:44246385..44329900hg17UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3883516
hg1983516
hg1883516
hg1783516
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6988458, essv6985679, essv6981847
SamplesBEC_493
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751099
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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