A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988250



Internal ID12980802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:48284250..48309750hg38UCSC Ensembl
Innerchr12:48678033..48703533hg19UCSC Ensembl
Innerchr12:46964300..46989800hg18UCSC Ensembl
Innerchr12:46964300..46989800hg17UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg3825501
hg1925501
hg1825501
hg1725501
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34952
Supporting Variants
SamplesNA18635
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988250
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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