A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584588



Internal ID18770058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:36947454..37026146hg38UCSC Ensembl
Innerchr11:36969003..37047696hg19UCSC Ensembl
Innerchr11:36925579..37004272hg18UCSC Ensembl
Cytoband11p12
Allele length
AssemblyAllele length
hg3878693
hg1978694
hg1878694
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9838747
SamplesOA072
Known Genes
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)esv3584588
Frequency
Sample Size34
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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