A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11590



Internal ID9608770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:42371195..42606135hg38UCSC Ensembl
Innerchr22:42767201..43002141hg19UCSC Ensembl
Innerchr22:41097145..41332085hg18UCSC Ensembl
Innerchr22:41091699..41326639hg17UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38234941
hg19234941
hg18234941
hg17234941
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758548
Supporting Variants
SamplesNA19173
Known GenesNFAM1, POLDIP3, RRP7A, RRP7B, SERHL, SERHL2
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)essv11590
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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