A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13658



Internal ID9973778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13585227..13749579hg38UCSC Ensembl
Innerchr21:14957548..15121900hg19UCSC Ensembl
Innerchr21:13879419..14043771hg18UCSC Ensembl
Innerchr21:13879419..14043771hg17UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38164353
hg19164353
hg18164353
hg17164353
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758529
Supporting Variants
SamplesNA19119
Known GenesLOC100288966, MIR8069, POTED
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)essv13658
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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