A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv30e213



Internal ID20151577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46317048..46687628hg38UCSC Ensembl
chr17:44394414..44764994hg19UCSC Ensembl
chr17:41750189..42120174hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38370581
hg19370581
hg18369986
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3584941, esv3584942
SamplesOA0039, OA013
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)dgv30e213
Frequency
Sample Size34
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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