A curated catalogue of human genomic structural variation




Variant Details

Variant: essv23003



Internal ID9621452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:19029328..19074200hg38UCSC Ensembl
Innerchr22:19016841..19061713hg19UCSC Ensembl
Innerchr22:17396841..17441713hg18UCSC Ensembl
Innerchr22:17391395..17436267hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3844873
hg1944873
hg1844873
hg1744873
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758535
Supporting Variants
SamplesNA12812
Known GenesDGCR11, DGCR2
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)essv23003
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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