A curated catalogue of human genomic structural variation




Variant Details

Variant: essv22306



Internal ID9620677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31060513..31264810hg38UCSC Ensembl
Innerchr6:31028290..31232587hg19UCSC Ensembl
Innerchr6:31136269..31340566hg18UCSC Ensembl
Innerchr6:31136269..31340566hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg38204298
hg19204298
hg18204298
hg17204298
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758042
Supporting Variants
SamplesNA06985
Known GenesC6orf15, CCHCR1, CDSN, HCG27, POU5F1, PSORS1C1, PSORS1C2, PSORS1C3, TCF19
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)essv22306
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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