A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758531



Internal ID9980608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:20343809..20583151hg38UCSC Ensembl
Innerchr21:21716121..21955464hg19UCSC Ensembl
Innerchr21:20637992..20877335hg18UCSC Ensembl
Innerchr21:20637992..20877335hg17UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg38239343
hg19239344
hg18239344
hg17239344
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758813
Supporting Variantsessv15831, essv12341, essv11861
SamplesNA19138, NA19221, NA19223
Known Genes
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)esv2758531
Frequency
Sample Size270
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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