A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3575631



Internal ID18703829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:173522063..173571850hg38UCSC Ensembl
Innerchr3:173239853..173289640hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg3849788
hg1949788
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1429e212
Supporting Variantsessv9768928, essv9768929, essv9768922, essv9768925, essv9768930, essv9768924, essv9768927, essv9768926, essv9768918, essv9768917, essv9768921, essv9768920, essv9768919
Samples401020DJ, 400649PS, 401769CR, 400230TB, 401096SL, 400385LJ, 401726LW, 401729AC, 400387HE, 400319HT, 400168HC, 401571SD, 401152MV
Known GenesNLGN1
MethodSNP array
AnalysisWe used four separate algorithms to detect CNVs; Affymetrix Chromosome Analysis Suite (ChAS), iPattern, Nexus and Partek. Our primary analysis was performed based on ChAS CNV calls, which were then supported using the remaining three algorithms to construct a confidence set of CNVs. For all algorithms, we have used 8 probes and >1kb as a base line cutoff for CNV detection.
PlatformAffymetrix CytoScan HD 2.7M array
Comments
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)esv3575631
Frequency
Sample Size873
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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