A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5509



Internal ID9966368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:61011206..61199884hg38UCSC Ensembl
Innerchr3:60996878..61185558hg19UCSC Ensembl
Innerchr3:60971918..61160598hg18UCSC Ensembl
Innerchr3:60971918..61160598hg17UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg38188679
hg19188681
hg18188681
hg17188681
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757872, esv2757873
Supporting Variants
SamplesNA18632
Known GenesFHIT
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)essv5509
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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