A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751116



Internal ID12984668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7864877..7978367hg38UCSC Ensembl
Innerchr12:8017473..8130963hg19UCSC Ensembl
Innerchr12:7908740..8022230hg18UCSC Ensembl
Innerchr12:7908740..8022230hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38113491
hg19113491
hg18113491
hg17113491
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv59e55
Supporting Variantsessv6982917, essv6982918
SamplesBEC_527
Known GenesSLC2A14, SLC2A3
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)esv2751116
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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