A curated catalogue of human genomic structural variation




Variant Details

Variant: essv20354



Internal ID9618508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:22419254..22760988hg38UCSC Ensembl
Innerchr16:22430575..22772309hg19UCSC Ensembl
Innerchr16:22338076..22679810hg18UCSC Ensembl
Innerchr16:22338076..22679810hg17UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg38341735
hg19341735
hg18341735
hg17341735
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758415
Supporting Variants
SamplesNA12236
Known GenesLOC100190986, LOC653786, MIR548AA2, MIR548D2, NPIPB5, RRN3P3, SMG1P1
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)essv20354
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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