A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15424



Internal ID9613030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:77607837..77796229hg38UCSC Ensembl
Innerchr14:78074180..78262572hg19UCSC Ensembl
Innerchr14:77143933..77332325hg18UCSC Ensembl
Innerchr14:77143933..77332325hg17UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38188393
hg19188393
hg18188393
hg17188393
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758362
Supporting Variants
SamplesNA19203
Known GenesALKBH1, C14orf178, SLIRP, SNW1, SPTLC2
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)essv15424
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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