A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984030



Internal ID12977573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7810616..7923089hg38UCSC Ensembl
Innerchr12:7963212..8075685hg19UCSC Ensembl
Innerchr12:7854479..7966952hg18UCSC Ensembl
Innerchr12:7854479..7966952hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38112474
hg19112474
hg18112474
hg17112474
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751114
Supporting Variants
SamplesBEC_755
Known GenesSLC2A14, SLC2A3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984030
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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