A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14372



Internal ID9611861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25153850..25560940hg38UCSC Ensembl
Innerchr22:25549817..25956907hg19UCSC Ensembl
Innerchr22:23879817..24286907hg18UCSC Ensembl
Innerchr22:23874371..24281461hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38407091
hg19407091
hg18407091
hg17407091
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758539
Supporting Variants
SamplesNA18507
Known GenesCRYBB2, CRYBB2P1, CRYBB3, IGLL3P, KIAA1671, LRP5L, MIR6817
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)essv14372
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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