A curated catalogue of human genomic structural variation




Variant Details

Variant: essv19099



Internal ID9617112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:197008669..197200642hg38UCSC Ensembl
Innerchr1:196977799..197169772hg19UCSC Ensembl
Innerchr1:195244422..195436395hg18UCSC Ensembl
Innerchr1:193709456..193901429hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38191974
hg19191974
hg18191974
hg17191974
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757767
Supporting Variants
SamplesNA07055
Known GenesASPM, CFHR5, F13B, ZBTB41
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)essv19099
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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