A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9793343



Internal ID18629510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:47063105..48174779hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg191111675
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3578846
Supporting Variants
Samples400114GR
Known GenesAGAP9, ANTXRL, ANTXRLP1, ANXA8, ANXA8L1, ANXA8L2, BMS1P2, BMS1P6, CTSLP2, FAM21B, FAM25B, FAM25C, FAM25G, FAM35DP, HNRNPA1P33, LINC00842, LOC100996758, NPY4R
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
CommentsNumber of probes=147
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9793343
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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