A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7352



Internal ID9629254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:10682445..10861098hg38UCSC Ensembl
Innerchr1:10742502..10921155hg19UCSC Ensembl
Innerchr1:10665089..10843742hg18UCSC Ensembl
Innerchr1:10676768..10855421hg17UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg38178654
hg19178654
hg18178654
hg17178654
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757723
Supporting Variants
SamplesNA18570
Known GenesCASZ1
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)essv7352
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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