A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584576



Internal ID18770046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:18927525..18940816hg38UCSC Ensembl
Innerchr11:18949072..18962363hg19UCSC Ensembl
Innerchr11:18905648..18918939hg18UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3813292
hg1913292
hg1813292
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9838277
SamplesKSF005
Known GenesMRGPRX1
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)esv3584576
Frequency
Sample Size34
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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