A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758042



Internal ID9633501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31060513..31529329hg38UCSC Ensembl
Innerchr6:31028290..31497106hg19UCSC Ensembl
Innerchr6:31136269..31605085hg18UCSC Ensembl
Innerchr6:31136269..31605085hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg38468817
hg19468817
hg18468817
hg17468817
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759414
Supporting Variantsessv4773, essv18965, essv7843, essv10053, essv2030, essv5400, essv23868, essv12843, essv21076, essv21839, essv12313, essv3089, essv14457, essv16474, essv20068, essv19239, essv22306, essv21551, essv5382, essv22195, essv14527
SamplesNA12814, NA18969, NA18563, NA19201, NA18558, NA07048, NA19138, NA18949, NA12005, NA12044, NA19120, NA11839, NA10838, NA19202, NA19099, NA06985, NA06991, NA12873, NA19139, NA18620
Known GenesC6orf15, CCHCR1, CDSN, HCG26, HCG27, HCP5, HLA-B, HLA-C, MCCD1, MICA, MICB, 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)esv2758042
Frequency
Sample Size270
Observed Gain15
Observed Loss6
Observed Complex0
Frequencyn/a


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