A curated catalogue of human genomic structural variation




Variant Details

Variant: essv19602



Internal ID9617672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:57595722..57905621hg38UCSC Ensembl
Innerchr20:56170778..56480677hg19UCSC Ensembl
Innerchr20:55604184..55914083hg18UCSC Ensembl
Innerchr20:55604184..55914083hg17UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg38309900
hg19309900
hg18309900
hg17309900
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758523
Supporting Variants
SamplesNA12155
Known GenesMIR4532, PMEPA1, 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)essv19602
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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