A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9838829



Internal ID18769930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7851829..7971304hg38UCSC Ensembl
Innerchr12:8004425..8123900hg19UCSC Ensembl
Innerchr12:7895692..8015167hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38119476
hg19119476
hg18119476
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3584621
Supporting Variants
SamplesOA2A
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)essv9838829
Frequency
Sample Size34
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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