A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584719



Internal ID18423503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46323701..46687628hg38UCSC Ensembl
Innerchr17:44401067..44764994hg19UCSC Ensembl
Innerchr17:41756832..42120174hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38363928
hg19363928
hg18363343
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv29e213
Supporting Variantsessv9837903, essv9837901, essv9837900, essv9837904
SamplesOA092, OA064, OA018, OA020
Known GenesARL17A, ARL17B, LRRC37A, LRRC37A2, NSF, NSFP1
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)esv3584719
Frequency
Sample Size34
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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