A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584939



Internal ID18423723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:109681805..109700331hg38UCSC Ensembl
Innerchr1:110224427..110242953hg19UCSC Ensembl
Innerchr1:110025950..110044476hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3818527
hg1918527
hg1818527
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1e213
Supporting Variantsessv9838326, essv9838327
SamplesOA062, OA016
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)esv3584939
Frequency
Sample Size34
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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