A curated catalogue of human genomic structural variation




Variant Details

Variant: essv1835



Internal ID9616280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:57595722..57807322hg38UCSC Ensembl
Innerchr20:56170778..56382378hg19UCSC Ensembl
Innerchr20:55604184..55815784hg18UCSC Ensembl
Innerchr20:55604184..55815784hg17UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg38211601
hg19211601
hg18211601
hg17211601
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758523
Supporting Variants
SamplesNA18976
Known GenesPMEPA1, ZBP1
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)essv1835
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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