A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12385



Internal ID9978663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19074874..19414160hg38UCSC Ensembl
Innerchr14:19662531..20000091hg19UCSC Ensembl
Innerchr14:18732531..19070091hg18UCSC Ensembl
Innerchr14:18732531..19070091hg17UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg38339287
hg19337561
hg18337561
hg17337561
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758348
Supporting Variants
SamplesNA19238
Known GenesBMS1P17, BMS1P18, 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)essv12385
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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