A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5157



Internal ID9964373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19074874..20088028hg38UCSC Ensembl
Innerchr14:19662531..20556187hg19UCSC Ensembl
Innerchr14:18732531..19626027hg18UCSC Ensembl
Innerchr14:18732531..19626027hg17UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg381013155
hg19893657
hg18893497
hg17893497
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758348
Supporting Variants
SamplesNA18564
Known GenesBMS1P17, BMS1P18, OR11H2, OR4K1, OR4K13, OR4K14, OR4K15, OR4K2, OR4K5, OR4L1, OR4M1, OR4N2, OR4Q3, POTEM
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)essv5157
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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