A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758639



Internal ID9634098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:25613390..25799933hg38UCSC Ensembl
Innerchr16:25624711..25811254hg19UCSC Ensembl
Innerchr16:25532212..25718755hg18UCSC Ensembl
Innerchr16:25532212..25718755hg17UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg38186544
hg19186544
hg18186544
hg17186544
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758417
SamplesNA19000
Known GenesHS3ST4
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)esv2758639
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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