A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584614



Internal ID18770084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:239426923..239437863hg38UCSC Ensembl
Innerchr1:239590223..239601163hg19UCSC Ensembl
Innerchr1:237656846..237667786hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3810941
hg1910941
hg1810941
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9838218
SamplesKSF008
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)esv3584614
Frequency
Sample Size34
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer