A curated catalogue of human genomic structural variation




Variant Details

Variant: essv23868



Internal ID9622411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31060513..31385001hg38UCSC Ensembl
Innerchr6:31028290..31352778hg19UCSC Ensembl
Innerchr6:31136269..31460757hg18UCSC Ensembl
Innerchr6:31136269..31460757hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg38324489
hg19324489
hg18324489
hg17324489
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758042
Supporting Variants
SamplesNA12814
Known GenesC6orf15, CCHCR1, CDSN, HCG27, HLA-B, HLA-C, MIR6891, 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)essv23868
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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