A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4843



Internal ID9626466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:22173410..22418131hg38UCSC Ensembl
Innerchr17:21700016..21917460hg19UCSC Ensembl
Innerchr17:21624144..21841587hg18UCSC Ensembl
Innerchr17:21624144..21841587hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38244722
hg19217445
hg18217444
hg17217444
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758446
Supporting Variants
SamplesNA18540
Known GenesFAM27L, FLJ36000
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)essv4843
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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