Variant DetailsVariant: esv3580634 | Internal ID | 18708832 | | Landmark | | | Location Information | | | Cytoband | 13q14.2 | | Allele length | | Assembly | Allele length | | hg38 | 7178 | | hg19 | 7178 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | | | Supporting Variants | essv9803257, essv9803260, essv9803246, essv9803219, essv9803227, essv9803236, essv9803221, essv9803250, essv9803262, essv9803205, essv9803210, essv9803197, essv9803252, essv9803198, essv9803231, essv9803223, essv9803207, essv9803238, essv9803261, essv9803228, essv9803206, essv9803215, essv9803245, essv9803240, essv9803209, essv9803203, essv9803230, essv9803213, essv9803192, essv9803225, essv9803204, essv9803193, essv9803220, essv9803251, essv9803232, essv9803224, essv9803254, essv9803217, essv9803212, essv9803208, essv9803235, essv9803248, essv9803241, essv9803234, essv9803196, essv9803214, essv9803239, essv9803243, essv9803218, essv9803249, essv9803216, essv9803194, essv9803226, essv9803259, essv9803229, essv9803258, essv9803253, essv9803247, essv9803202, essv9803237, essv9803256, essv9803242, essv9803201, essv9803195 | | Samples | 401799DP, 401366WD, 400439IM, 401285HN, 400468OB, 400140WM, 400970VE, 401330RR, 400949AM, 400852WJ, 400077EB, 400797ST, 400493KH, 400523GB, 401936BA, 401390DG, 401906DT, 400827MM, 400606HW, 400743LS, 400051MR, 400320RN, 400427SD, 401609MB, 400041LJ, 401448BJ, 400040CN, 400702PA, 401119DK, 400960TN, 401586RS, 401563TK, 401506LK, 400724CD, 400050RL, 400639RP, 400524NJ, 400371GA, 400846MC, 401795SP, 400598DA, 400721DJ, 401112LG, 400378HL, 401203MP, 400732MA, 401428LD, 400158FB, 400601WC, 400881GS, 401010HT, 401661HD, 401314MK, 400859SC, 4000046CJ, 400811SK, 400719TM, 400315DA, 400173KP, 401053MF, 400209BS, 401612HB, 400540BM, 400704LC | | Known Genes | ST13P4 | | 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) | esv3580634
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 64 | | Observed Complex | 0 | | Frequency | n/a |
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