A curated catalogue of human genomic structural variation




Variant Details

Variant: essv335



Internal ID9624807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:223747518..223936928hg38UCSC Ensembl
Innerchr1:223935220..224124630hg19UCSC Ensembl
Innerchr1:222001843..222191253hg18UCSC Ensembl
Innerchr1:220241955..220431365hg17UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38189411
hg19189411
hg18189411
hg17189411
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757772
Supporting Variants
SamplesNA18971
Known GenesCAPN2, TP53BP2
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)essv335
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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