A curated catalogue of human genomic structural variation




Variant Details

Variant: essv24262



Internal ID9622850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18845607..19004697hg38UCSC Ensembl
Innerchr22:18833120..18992210hg19UCSC Ensembl
Innerchr22:17213120..17372210hg18UCSC Ensembl
Innerchr22:17207674..17366764hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38159091
hg19159091
hg18159091
hg17159091
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758535
Supporting Variants
SamplesNA10856
Known GenesDGCR5, DGCR6, PRODH
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)essv24262
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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