Variant DetailsVariant: esv3577752 Internal ID | 18359264 | Landmark | | Location Information | | Cytoband | 1p36.13 | Allele length | Assembly | Allele length | hg38 | 420472 | hg19 | 420472 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | essv9800533, essv9800644, essv9800755, essv9800866, essv9800977, essv9800311, essv9801200, essv9801089, essv9800422 | Samples | 400352CA, 401027KW, 400285FA, 401506LK, 401288LD, 401012TP, 400863SS, 400205SP, 401517PR | Known Genes | CROCC, CROCCP2, ESPNP, LOC729574, MIR3675, MST1L, MST1P2, NBPF1 | Method | SNP array | Analysis | We 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. | Platform | Affymetrix CytoScan HD 2.7M array | Comments | | Reference | Uddin_et_al_2014 | Pubmed ID | 25503493 | Accession Number(s) | esv3577752
| Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 9 | Observed Complex | 0 | Frequency | n/a |
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