A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751114



Internal ID12984666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7810616..7964473hg38UCSC Ensembl
Innerchr12:7963212..8117069hg19UCSC Ensembl
Innerchr12:7854479..8008336hg18UCSC Ensembl
Innerchr12:7854479..8008336hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38153858
hg19153858
hg18153858
hg17153858
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6989900, essv6984030
SamplesBEC_755
Known GenesSLC2A14, SLC2A3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751114
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer