A curated catalogue of human genomic structural variation




Variant Details

Variant: essv19239



Internal ID9617268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31060513..31266804hg38UCSC Ensembl
Innerchr6:31028290..31234581hg19UCSC Ensembl
Innerchr6:31136269..31342560hg18UCSC Ensembl
Innerchr6:31136269..31342560hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg38206292
hg19206292
hg18206292
hg17206292
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758042
Supporting Variants
SamplesNA10838
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)essv19239
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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