A curated catalogue of human genomic structural variation




Variant Details

Variant: essv22328



Internal ID9620701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:167836188..168314704hg38UCSC Ensembl
Innerchr6:168236868..168715384hg19UCSC Ensembl
Innerchr6:167979717..168458233hg18UCSC Ensembl
Innerchr6:168055424..168533940hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38478517
hg19478517
hg18478517
hg17478517
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758606
Supporting Variants
SamplesNA06985
Known GenesDACT2, FRMD1, HGC6.3, KIF25, KIF25-AS1, MLLT4
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)essv22328
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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