A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758714



Internal ID9634173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:12240682..12499526hg38UCSC Ensembl
Innerchr18:12240681..12499525hg19UCSC Ensembl
Innerchr18:12230681..12489525hg18UCSC Ensembl
Innerchr18:12230681..12489525hg17UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38258845
hg19258845
hg18258845
hg17258845
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758471
SamplesNA18526
Known GenesAFG3L2, CIDEA, SLMO1, SPIRE1, TUBB6
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)esv2758714
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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