A curated catalogue of human genomic structural variation




Variant Details

Variant: essv23854



Internal ID9622396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46126041..46410395hg38UCSC Ensembl
Innerchr17:44203407..44487761hg19UCSC Ensembl
Innerchr17:41559185..41843177hg18UCSC Ensembl
Innerchr17:41559185..41843177hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38284355
hg19284355
hg18283993
hg17283993
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758457
Supporting Variants
SamplesNA07022
Known GenesARL17A, ARL17B, KANSL1, KANSL1-AS1, LOC644172, LRRC37A, 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)essv23854
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer