A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7221



Internal ID9629109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:17479242..18291834hg38UCSC Ensembl
Innerchr16:17573099..18385691hg19UCSC Ensembl
Innerchr16:17480600..18293192hg18UCSC Ensembl
Innerchr16:17480600..18293192hg17UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38812593
hg19812593
hg18812593
hg17812593
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758413
Supporting Variants
SamplesNA18547
Known Genes
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)essv7221
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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