A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584928



Internal ID18770398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:109690352..109700331hg38UCSC Ensembl
Innerchr1:110232974..110242953hg19UCSC Ensembl
Innerchr1:110034497..110044476hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg389980
hg199980
hg189980
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9838202, essv9838203, essv9838200
SamplesKSM003, KSF024, KSF008
Known GenesGSTM1
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)esv3584928
Frequency
Sample Size34
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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