A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6824



Internal ID9628667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:29131401..30316563hg38UCSC Ensembl
Innerchr2:29354267..30539429hg19UCSC Ensembl
Innerchr2:29207771..30392933hg18UCSC Ensembl
Innerchr2:29265918..30451080hg17UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg381185163
hg191185163
hg181185163
hg171185163
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757789
Supporting Variants
SamplesNA18579
Known GenesALK, CLIP4, LBH, YPEL5
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)essv6824
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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