A curated catalogue of human genomic structural variation




Variant Details

Variant: essv23221



Internal ID9621694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46314456..46628949hg38UCSC Ensembl
Innerchr17:44391822..44706315hg19UCSC Ensembl
Innerchr17:41747597..42061631hg18UCSC Ensembl
Innerchr17:41747597..42061631hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38314494
hg19314494
hg18314035
hg17314035
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758457
Supporting Variants
SamplesNA07029
Known GenesARL17A, ARL17B, LRRC37A, LRRC37A2, NSF, NSFP1
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)essv23221
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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