A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3577896



Internal ID18706094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:62086500..62095421hg38UCSC Ensembl
Innerchr1:62552172..62561093hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg388922
hg198922
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv43e212
Supporting Variantsessv9767879, essv9768001, essv9767990, essv9767934, essv9767890, essv9767979, essv9767868, essv9767845, essv9767945, essv9767901, essv9767923, essv9767856, essv9767912, essv9767967, essv9767956
Samples400625FT, 400827MM, 401353BC, 400838AM, 401804FG, 4000657TM, 400686BM, 400705KK, 401875FG, 401919MD, 401580CA, 401259LS, 400156WT, 400586RD, 400661AD
Known GenesINADL
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)esv3577896
Frequency
Sample Size873
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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