A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12360



Internal ID9609626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:86965868..87291715hg38UCSC Ensembl
Innerchr10:88725625..89051472hg19UCSC Ensembl
Innerchr10:88715605..89041452hg18UCSC Ensembl
Innerchr10:88715605..89041452hg17UCSC Ensembl
Cytoband10q23.2
Allele length
AssemblyAllele length
hg38325848
hg19325848
hg18325848
hg17325848
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758234
Supporting Variants
SamplesNA19138
Known GenesADIRF, AGAP11, FAM25A, FAM35A, GLUD1, NUTM2A, NUTM2A-AS1
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)essv12360
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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