A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1e213



Internal ID20151548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:109681762..109700331hg38UCSC Ensembl
chr1:110224384..110242953hg19UCSC Ensembl
chr1:110025907..110044476hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3818570
hg1918570
hg1818570
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3584950, esv3584939, esv3584917
SamplesOA062, OA059, KSF005, OA007, OA017, OA0039, KSM006, KSM008, OA053, OA013, OA001, OA016, OA018b
Known GenesGSTM1, GSTM2
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)dgv1e213
Frequency
Sample Size34
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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