A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751119



Internal ID12984671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7864882..7964473hg38UCSC Ensembl
Innerchr12:8017478..8117069hg19UCSC Ensembl
Innerchr12:7908745..8008336hg18UCSC Ensembl
Innerchr12:7908745..8008336hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3899592
hg1999592
hg1899592
hg1799592
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv59e55
Supporting Variantsessv6984073, essv6984074, essv6984072, essv6988751
SamplesBEC_768
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)esv2751119
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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