A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9838446



Internal ID18769163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:5766175..5791130hg38UCSC Ensembl
Innerchr11:5787405..5812360hg19UCSC Ensembl
Innerchr11:5743981..5768936hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3824956
hg1924956
hg1824956
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3584633
Supporting Variants
SamplesKSF008
Known GenesOR52N1, OR52N5
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)essv9838446
Frequency
Sample Size34
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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