A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9838579



Internal ID18422922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:99511684..99545854hg38UCSC Ensembl
Innerchr4:100432841..100467011hg19UCSC Ensembl
Innerchr4:100651864..100686034hg18UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg3834171
hg1934171
hg1834171
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3584522
Supporting Variants
SamplesOA018
Known GenesC4orf17
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)essv9838579
Frequency
Sample Size34
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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