A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3571725



Internal ID18699923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:30874793..30876452hg38UCSC Ensembl
Innerchr7:30914408..30916067hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg381660
hg191660
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9783253, essv9783258, essv9783257, essv9783254, essv9783256
Samples401459HF, 400468OB, 401050GS, 400371GA, 400235MP
Known GenesFAM188B, INMT-FAM188B
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)esv3571725
Frequency
Sample Size873
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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