A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9778095



Internal ID18626526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:8589683..8718755hg38UCSC Ensembl
Innerchr6:8589916..8718988hg19UCSC Ensembl
Cytoband6p24.3
Allele length
AssemblyAllele length
hg38129073
hg19129073
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3570761
Supporting Variants
Samples400050RL
Known GenesHULC, LOC100506207
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=119
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9778095
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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