A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758848



Internal ID9980993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:48378799..48420421hg38UCSC Ensembl
Innerchr22:48774611..48816233hg19UCSC Ensembl
Innerchr22:47153275..47194897hg18UCSC Ensembl
Innerchr22:47095130..47136752hg17UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg3841623
hg1941623
hg1841623
hg1741623
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758555
SamplesNA12762, NA18975, NA19101, NA19094, NA19223, NA07034, NA19153
Known Genes
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)esv2758848
Frequency
Sample Size270
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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