A curated catalogue of human genomic structural variation




Variant Details

Variant: essv791



Internal ID9629873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25256293..25424871hg38UCSC Ensembl
Innerchr22:25652260..25820838hg19UCSC Ensembl
Innerchr22:23982260..24150838hg18UCSC Ensembl
Innerchr22:23976814..24145392hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38168579
hg19168579
hg18168579
hg17168579
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758539
Supporting Variants
SamplesNA18956
Known GenesIGLL3P, LRP5L
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)essv791
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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