A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584782



Internal ID18770252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:188339..193194hg38UCSC Ensembl
Innerchr3:230022..234877hg19UCSC Ensembl
Innerchr3:205022..209877hg18UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg384856
hg194856
hg184856
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9838000, essv9838004, essv9838005, essv9838002, essv9838003
SamplesOA059, OA012, OA2A, OA054, OA001
Known Genes
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)esv3584782
Frequency
Sample Size34
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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