A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584964



Internal ID18770434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:1580934..1613247hg38UCSC Ensembl
Innerchr20:1561580..1593893hg19UCSC Ensembl
Innerchr20:1509580..1541893hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3832314
hg1932314
hg1832314
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv39e213
Supporting Variantsessv9838558, essv9838555, essv9838565, essv9838566, essv9838561, essv9838559, essv9838563, essv9838560, essv9838557, essv9838564, essv9838562
Samples8S, OA059, 2RB, OA2A, OA064, OA018, KSM003, OA013, OA091, KSF024, OA016
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)esv3584964
Frequency
Sample Size34
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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