A curated catalogue of human genomic structural variation




Variant Details

Variant: essv23412



Internal ID9621906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:24970834..25560940hg38UCSC Ensembl
Innerchr22:25366801..25956907hg19UCSC Ensembl
Innerchr22:23696801..24286907hg18UCSC Ensembl
Innerchr22:23691355..24281461hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38590107
hg19590107
hg18590107
hg17590107
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758539
Supporting Variants
SamplesNA10854
Known GenesCRYBB2, CRYBB2P1, CRYBB3, IGLL3P, KIAA1671, LOC100128531, 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)essv23412
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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