A curated catalogue of human genomic structural variation




Variant Details

Variant: essv24381



Internal ID9622982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:44247941..44288416hg38UCSC Ensembl
Innerchr22:44643821..44684296hg19UCSC Ensembl
Innerchr22:42975154..43015629hg18UCSC Ensembl
Innerchr22:42968722..43009197hg17UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3840476
hg1940476
hg1840476
hg1740476
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758549
Supporting Variants
SamplesNA12707
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)essv24381
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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