A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9838106



Internal ID18768902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:10136599..10143653hg38UCSC Ensembl
Innerchr18:10136596..10143650hg19UCSC Ensembl
Innerchr18:10126596..10133650hg18UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg387055
hg197055
hg187055
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3584724
Supporting Variants
Samples2RB
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)essv9838106
Frequency
Sample Size34
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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