A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3576750



Internal ID18704948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46287822..47609552hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg191321731
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv214e212
Supporting Variantsessv9793227
Samples401606CG
Known GenesAGAP4, AGAP9, ANTXRLP1, ANXA8, BMS1P1, BMS1P2, BMS1P5, BMS1P6, FAM21C, FAM25C, FAM25G, FAM35BP, FAM35DP, GLUD1P7, GPRIN2, HNRNPA1P33, LINC00842, LOC100996758, NPY4R, PTPN20A, PTPN20B, SYT15
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)esv3576750
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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