A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584780



Internal ID18770250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:38967614..38979302hg38UCSC Ensembl
Innerchr22:39363619..39375307hg19UCSC Ensembl
Innerchr22:37693565..37705253hg18UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3811689
hg1911689
hg1811689
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9838244, essv9838240, essv9838246, essv9838242, essv9838248, essv9838247, essv9838241, essv9838243, essv9838239
SamplesOA012, OA003, 2RB, OA005, B4, OA092, KSM003, OA072, KSF024
Known GenesAPOBEC3A_B
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)esv3584780
Frequency
Sample Size34
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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