A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584478



Internal ID18423262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:42827914..42993457hg38UCSC Ensembl
Innerchr21:44248024..44413567hg19UCSC Ensembl
Innerchr21:43121093..43286636hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38165544
hg19165544
hg18165544
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9838920
SamplesKSM003
Known GenesNDUFV3, PKNOX1, WDR4
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)esv3584478
Frequency
Sample Size34
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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