A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584722



Internal ID18423506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46317046..46323700hg38UCSC Ensembl
Innerchr17:44394412..44401066hg19UCSC Ensembl
Innerchr17:41750187..41756831hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg386655
hg196655
hg186645
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9838098
SamplesOA020
Known GenesARL17A, ARL17B, LRRC37A
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)esv3584722
Frequency
Sample Size34
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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