A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758040



Internal ID9633499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:29824657..30007367hg38UCSC Ensembl
Innerchr6:29792434..29975144hg19UCSC Ensembl
Innerchr6:29900413..30083123hg18UCSC Ensembl
Innerchr6:29900413..30083123hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg38182711
hg19182711
hg18182711
hg17182711
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759412
Supporting Variantsessv20264, essv11163, essv15829, essv21822, essv21023, essv23366, essv10417, essv1857, essv17580, essv2972, essv8831, essv3373, essv20027, essv18213, essv5521, essv1199, essv23915, essv14288, essv21693, essv2179, essv17951
SamplesNA19222, NA18508, NA12814, NA12248, NA12750, NA18960, NA07048, NA12762, NA18951, NA19194, NA12003, NA18529, NA18976, NA11839, NA18981, NA12144, NA18945, NA06991, NA12057, NA19223, NA19211
Known GenesHCG4B, HCG9, HLA-A, HLA-G, HLA-H, HLA-J, ZNRD1-AS1
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)esv2758040
Frequency
Sample Size270
Observed Gain18
Observed Loss3
Observed Complex0
Frequencyn/a


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