A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758841



Internal ID9634300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:44247941..44305421hg38UCSC Ensembl
Innerchr22:44643821..44701301hg19UCSC Ensembl
Innerchr22:42975154..43032634hg18UCSC Ensembl
Innerchr22:42968722..43026202hg17UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3857481
hg1957481
hg1857481
hg1757481
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758549
SamplesNA12762, NA19154, NA12707, NA18523, NA12057, NA06994
Known GenesKIAA1644
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)esv2758841
Frequency
Sample Size270
Observed Gain2
Observed Loss4
Observed Complex0
Frequencyn/a


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