A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758671



Internal ID9634130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:89804324..89901541hg38UCSC Ensembl
Innerchr16:89870732..89967949hg19UCSC Ensembl
Innerchr16:88398233..88495450hg18UCSC Ensembl
Innerchr16:88398233..88495450hg17UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg3897218
hg1997218
hg1897218
hg1797218
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758438
SamplesNA12154, NA12814, NA10830
Known GenesFANCA, SPIRE2, TCF25
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)esv2758671
Frequency
Sample Size270
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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