A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5934



Internal ID9627678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:19001284..19045011hg38UCSC Ensembl
Innerchr22:18988797..19032524hg19UCSC Ensembl
Innerchr22:17368797..17412524hg18UCSC Ensembl
Innerchr22:17363351..17407078hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3843728
hg1943728
hg1843728
hg1743728
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758535
Supporting Variants
SamplesNA18550
Known GenesDGCR10, DGCR2, DGCR9
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)essv5934
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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