A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584718



Internal ID18770188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46317046..46674934hg38UCSC Ensembl
Innerchr17:44394412..44752300hg19UCSC Ensembl
Innerchr17:41750187..42107479hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38357889
hg19357889
hg18357293
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv29e213
Supporting Variantsessv9837897, essv9837896, essv9837898, essv9837895, essv9837893, essv9837894
SamplesKSF005, OA012, 2RB, KSM008, KSM003, OA018b
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)esv3584718
Frequency
Sample Size34
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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