A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758656



Internal ID9634115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:74300882..74553287hg38UCSC Ensembl
Innerchr16:74334780..74587185hg19UCSC Ensembl
Innerchr16:72892281..73144686hg18UCSC Ensembl
Innerchr16:72892281..73144686hg17UCSC Ensembl
Cytoband16q22.3
Allele length
AssemblyAllele length
hg38252406
hg19252406
hg18252406
hg17252406
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758431
SamplesNA18603, NA18547, NA19138, NA18949, NA19210, NA19205, NA18981, NA19154, NA18532, NA12057, NA19102, NA18854, NA18852, NA18624, NA19139, NA18620
Known GenesCLEC18B, GLG1, LOC283922, PSMD7
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)esv2758656
Frequency
Sample Size270
Observed Gain8
Observed Loss8
Observed Complex0
Frequencyn/a


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