A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758416



Internal ID9633875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:24932074..25175657hg38UCSC Ensembl
Innerchr16:24943395..25186978hg19UCSC Ensembl
Innerchr16:24850896..25094479hg18UCSC Ensembl
Innerchr16:24850896..25094479hg17UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg38243584
hg19243584
hg18243584
hg17243584
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758638
Supporting Variantsessv10905, essv11173
SamplesNA19209, NA19211
Known GenesARHGAP17, LCMT1, LOC100506655, LOC554206
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)esv2758416
Frequency
Sample Size270
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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