A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584966



Internal ID18770436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:1580934..1618432hg38UCSC Ensembl
Innerchr20:1561580..1599078hg19UCSC Ensembl
Innerchr20:1509580..1547078hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3837499
hg1937499
hg1837499
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv39e213
Supporting Variantsessv9838593
SamplesOA062
Known GenesSIRPB1
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)esv3584966
Frequency
Sample Size34
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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