A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584532



Internal ID18770002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161541620..161669769hg38UCSC Ensembl
Innerchr1:161511410..161639559hg19UCSC Ensembl
Innerchr1:159778034..159906183hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38128150
hg19128150
hg18128150
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9838861
SamplesOA013
Known GenesFCGR2B, FCGR2C, FCGR3A, FCGR3B, HSPA7
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)esv3584532
Frequency
Sample Size34
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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