A curated catalogue of human genomic structural variation




Variant Details

Variant: essv20333



Internal ID9618485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:22426925..22591105hg38UCSC Ensembl
Innerchr17:21926254..22090432hg19UCSC Ensembl
Innerchr17:21850381..22014559hg18UCSC Ensembl
Innerchr17:21850381..22014559hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38164181
hg19164179
hg18164179
hg17164179
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758446
Supporting Variants
SamplesNA12236
Known GenesMTRNR2L1
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)essv20333
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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