A curated catalogue of human genomic structural variation




Variant Details

Variant: essv1515



Internal ID9612725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:45178343..45505205hg38UCSC Ensembl
Innerchr22:45574224..45901085hg19UCSC Ensembl
Innerchr22:43952888..44279749hg18UCSC Ensembl
Innerchr22:43894761..44221622hg17UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38326863
hg19326862
hg18326862
hg17326862
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758551
Supporting Variants
SamplesNA18980
Known GenesFAM118A, FBLN1, KIAA0930, MIR1249, NUP50, RIBC2, SMC1B, UPK3A
MethodBAC aCGH
AnalysisArray images were acquired using an Agilent laser scanner (Agilent Technologies, UK). Fluorescence intensities and log2 ratio values were extracted using Bluefuse software (Bluegnome Ltd).
PlatformAgilent
Comments
ReferenceRedon_et_al_2006
Pubmed ID17122850
Accession Number(s)essv1515
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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