A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15064



Internal ID9612630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:30184894..30349414hg38UCSC Ensembl
Innerchr20:29419570..29584090hg19UCSC Ensembl
Innerchr20:28033231..28197751hg18UCSC Ensembl
Innerchr20:28033231..28197751hg17UCSC Ensembl
Cytoband20q11.1
Allele length
AssemblyAllele length
hg38164521
hg19164521
hg18164521
hg17164521
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758518
Supporting Variants
SamplesNA19129
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)essv15064
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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