A curated catalogue of human genomic structural variation




Variant Details

Variant: essv17728



Internal ID9960996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:78180759..78390046hg38UCSC Ensembl
Innerchr6:78890476..79099763hg19UCSC Ensembl
Innerchr6:78947195..79156482hg18UCSC Ensembl
Innerchr6:78947195..79156482hg17UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg38209288
hg19209288
hg18209288
hg17209288
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758064
Supporting Variants
SamplesNA12872
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)essv17728
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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