A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584809



Internal ID18770279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:72303253..72379161hg38UCSC Ensembl
Innerchr1:72768936..72844844hg19UCSC Ensembl
Innerchr1:72541524..72617432hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3875909
hg1975909
hg1875909
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9838732
SamplesOA064
Known Genes
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)esv3584809
Frequency
Sample Size34
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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