A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9837873



Internal ID18768917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:50327055..50622310hg38UCSC Ensembl
Innerchr3:50364486..50659741hg19UCSC Ensembl
Innerchr3:50339490..50634745hg18UCSC Ensembl
Cytoband3p21.2
Allele length
AssemblyAllele length
hg38295256
hg19295256
hg18295256
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3584502
Supporting Variants
Samples2RB
Known GenesC3orf18, CACNA2D2, CISH, CYB561D2, HEMK1, MAPKAPK3, NPRL2, RASSF1, TMEM115, TUSC2, ZMYND10
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)essv9837873
Frequency
Sample Size34
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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