A curated catalogue of human genomic structural variation




Variant Details

Variant: essv20788



Internal ID9618989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:16480251..16762752hg38UCSC Ensembl
Innerchr16:16574108..16856609hg19UCSC Ensembl
Innerchr16:16481609..16764110hg18UCSC Ensembl
Innerchr16:16481609..16764110hg17UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38282502
hg19282502
hg18282502
hg17282502
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758412
Supporting Variants
SamplesNA12146
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)essv20788
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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