A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9807145



Internal ID18695325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:90760137..90772550hg38UCSC Ensembl
Innerchr14:91226481..91238894hg19UCSC Ensembl
Cytoband14q32.11
Allele length
AssemblyAllele length
hg3812414
hg1912414
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3581387
Supporting Variants
Samples402056KD
Known GenesTTC7B
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=12
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9807145
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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