A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5787



Internal ID9627514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:239602794..240226204hg38UCSC Ensembl
Innerchr1:239766094..240389504hg19UCSC Ensembl
Innerchr1:237832717..238456127hg18UCSC Ensembl
Innerchr1:236092135..236715545hg17UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38623411
hg19623411
hg18623411
hg17623411
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757778
Supporting Variants
SamplesNA18566
Known GenesCHRM3, CHRM3-AS1, CHRM3-AS2, FMN2, RPS7P5
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)essv5787
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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