A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584784



Internal ID18770254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:37940613..37945437hg38UCSC Ensembl
Innerchr3:37982104..37986928hg19UCSC Ensembl
Innerchr3:37957108..37961932hg18UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg384825
hg194825
hg184825
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9837982, essv9837995, essv9837986, essv9837991, essv9837978, essv9837983, essv9837997, essv9837987, essv9837981, essv9837992, essv9837985, essv9837994, essv9837989, essv9837980, essv9837988, essv9837998, essv9837984, essv9837996, essv9837993
SamplesKSF005, OA012, OA003, OA017, B4, OA0039, KSM006, OA064, OA053, OA074, OA054, OA013, OA072, OA020, KSF024, KSF008, OA016, OA018b, 3LK
Known GenesCTDSPL
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)esv3584784
Frequency
Sample Size34
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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