Variant DetailsVariant: esv3570441 | Internal ID | 18351953 | | Landmark | | | Location Information | | | Cytoband | 5q31.2 | | Allele length | | Assembly | Allele length | | hg38 | 16398 | | hg19 | 16398 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | dgv1649e212 | | Supporting Variants | essv9776206, essv9776179, essv9776194, essv9776183, essv9776170, essv9776187, essv9776148, essv9776191, essv9776157, essv9776182, essv9776153, essv9776207, essv9776202, essv9776160, essv9776171, essv9776218, essv9776216, essv9776186, essv9776152, essv9776209, essv9776162, essv9776185, essv9776167, essv9776145, essv9776147, essv9776168, essv9776142, essv9776215, essv9776150, essv9776203, essv9776193, essv9776143, essv9776151, essv9776181, essv9776146, essv9776192, essv9776184, essv9776139, essv9776198, essv9776190, essv9776174, essv9776219, essv9776217, essv9776210, essv9776204, essv9776195, essv9776197, essv9776158, essv9776189, essv9776156, essv9776175, essv9776205, essv9776208, essv9776165, essv9776212, essv9776176, essv9776169, essv9776141, essv9776161, essv9776180, essv9776163, essv9776149, essv9776213, essv9776201, essv9776214, essv9776154, essv9776173, essv9776172, essv9776178, essv9776159, essv9776140, essv9776164, essv9776220, essv9776196 | | Samples | 400075MR, 401366WD, 401162TM, 400439IM, 400789KV, 401275SJ, 400906BR, 400970VE, 401911FL, 401783BD, 400595CP, 401918CA, 401698SB, 400625FT, 401824MM, 400277LM, 401190WC, 400379BB, 400131CM, 400438DB, 400588BE, 401690HA, 401832MC, 400307HW, 400121PL, 400385LJ, 400374LB, 400198MD, 401050GS, 401386WA, 400007RG, 400738WM, 402063WM, 401251WN, 400040CN, 401091HS, 400768MN, 401717LP, 401357MH, 401210PB, 400496BL, 401185LE, 400375KA, 400381CA, 400265LK, 400124FR, 400171BJ, 400547BS, 401262RR, 401443JK, 400211BJ, 400978JG, 401307VR, 401700BN, 401182OC, 400430KV, 401334DH, 400156WT, 401847RK, 400295PS, 400069CN, 401288LD, 401010HT, 400267GD, 401571SD, 401149VA, 400586RD, 400072GR, 4000046CJ, 402008MC, 400209BS, 400540BM, 400645KM, 401180GR | | Known Genes | | | 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) | esv3570441
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 74 | | Observed Complex | 0 | | Frequency | n/a |
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