A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3075



Internal ID9624502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:69952660..70279319hg38UCSC Ensembl
Innerchr16:69986563..70313222hg19UCSC Ensembl
Innerchr16:68544064..68870723hg18UCSC Ensembl
Innerchr16:68544064..68870723hg17UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38326660
hg19326660
hg18326660
hg17326660
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758428
Supporting Variants
SamplesNA18981
Known GenesAARS, CLEC18A, CLEC18C, EXOSC6, LOC100506060, MIR1972-1, MIR1972-2, PDPR, PDXDC2P
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)essv3075
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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