Variant DetailsVariant: esv3571474 | Internal ID | 18352986 | | Landmark | | | Location Information | | | Cytoband | 6q25.1 | | Allele length | | Assembly | Allele length | | hg38 | 25193 | | hg19 | 25193 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | dgv1843e212 | | Supporting Variants | essv9782384, essv9782370, essv9782361, essv9782385, essv9782376, essv9782365, essv9782397, essv9782386, essv9782387, essv9782399, essv9782392, essv9782372, essv9782396, essv9782393, essv9782391, essv9782371, essv9782363, essv9782398, essv9782377, essv9782382, essv9782364, essv9782383, essv9782380, essv9782375, essv9782394, essv9782388, essv9782368, essv9782366, essv9782395, essv9782374, essv9782369, essv9782390, essv9782362, essv9782373, essv9782381, essv9782379 | | Samples | 400377WJ, 400468OB, 401460LW, 400221VM, 401841OB, 400655WB, 401442WR, 400509CJ, 400203NA, 400307HW, 401831TW, 400579HJ, 401609MB, 400107MJ, 400109LJ, 400442FE, 401732HW, 400783MJ, 401419SW, 401943KA, 400844GP, 400361HC, 400705KK, 400371GA, 400598DA, 400354TJ, 401307VR, 401778CB, 400201PK, 400837HN, 400471YS, 402009WP, 400410CD, 400859SC, 400291VJ, 400152MR | | Known Genes | ESR1 | | 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) | esv3571474
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 36 | | Observed Complex | 0 | | Frequency | n/a |
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