A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11e213



Internal ID22786029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7851829..7987805hg38UCSC Ensembl
chr12:8004425..8140401hg19UCSC Ensembl
chr12:7895692..8031668hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38135977
hg19135977
hg18135977
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3584632, esv3584621
Samples2RB, OA2A
Known GenesSLC2A14, SLC2A3
MethodSNP array
AnalysisWe applied stringent filtering criteria such that CNV had to be a minimum of 1 kb and span 5 consecutive probes, and be detected by at least 2 out of the 3 algorithms. In addition we excluded CNVs that were on the X and Y-chromosomes, or approximately 300 kb adjacent to the centromeres and telomeres.
PlatformAffymetrix Genome-Wide Human SNP Array 6.0
Comments
ReferenceMokhtar_et_al_2014
Pubmed ID24956385
Accession Number(s)dgv11e213
Frequency
Sample Size34
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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