A curated catalogue of human genomic structural variation




Variant Details

Variant: essv18180



Internal ID9616092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:44286417..44305421hg38UCSC Ensembl
Innerchr22:44682297..44701301hg19UCSC Ensembl
Innerchr22:43013630..43032634hg18UCSC Ensembl
Innerchr22:43007198..43026202hg17UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3819005
hg1919005
hg1819005
hg1719005
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758549
Supporting Variants
SamplesNA12057
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)essv18180
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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