Variant DetailsVariant: esv3577038 | Internal ID | 18705236 | | Landmark | | | Location Information | | | Cytoband | Xq22.3 | | Allele length | | Assembly | Allele length | | hg38 | 8408 | | hg19 | 8408 |
| | Variant Type | CNV gain | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | dgv2361e212 | | Supporting Variants | essv9828275, essv9828243, essv9828268, essv9828241, essv9828242, essv9828209, essv9828198, essv9828230, essv9828231, essv9828213, essv9828196, essv9828287, essv9828240, essv9828248, essv9828212, essv9828215, essv9828290, essv9828246, essv9828201, essv9828261, essv9828217, essv9828236, essv9828252, essv9828285, essv9828218, essv9828234, essv9828289, essv9828245, essv9828208, essv9828206, essv9828274, essv9828283, essv9828223, essv9828195, essv9828284, essv9828279, essv9828258, essv9828269, essv9828229, essv9828264, essv9828220, essv9828247, essv9828291, essv9828226, essv9828254, essv9828210, essv9828190, essv9828293, essv9828228, essv9828253, essv9828237, essv9828263, essv9828276, essv9828278, essv9828267, essv9828235, essv9828270, essv9828259, essv9828250, essv9828192, essv9828227, essv9828260, essv9828272, essv9828205, essv9828191, essv9828282, essv9828273, essv9828256, essv9828271, essv9828214, essv9828207, essv9828197, essv9828292, essv9828225, essv9828193, essv9828238, essv9828262, essv9828224, essv9828194, essv9828257, essv9828216, essv9828280, essv9828202, essv9828203, essv9828286, essv9828239, essv9828249, essv9828221, essv9828232, essv9828251, essv9828265, essv9828204, essv9828281, essv9828219 | | Samples | 400701MM, 401366WD, 400618GC, 401196CR, 400987FB, 401640WJ, 400336BG, 400594VJ, 400889CM, 400876OG, 401592NR, 401742KB, 401498HH, 400866RR, 401195PN, 401698SB, 400834SS, 400553PP, 401949MN, 401390DG, 401860TJ, 401239PR, 400337HG, 400773GS, 402038MR, 400061DE, 400073HT, 400526DR, 400583HS, 400460DM, 401184MM, 400307HW, 400817MB, 400836LK, 401994BD, 400733SW, 401013GJ, 400041LJ, 401977ES, 401376RD, 400411TG, 400577MK, 400515ZG, 401691HA, 401870FB, 401499JR, 401274PA, 400791GC, 401589HP, 400660GK, 401210PB, 401526WB, 400967PK, 401423BA, 401348RB, 401519SA, 401618HR, 401475MK, 401771OS, 401084BD, 401444LD, 400854SG, 400211BJ, 401067BD, 401580CA, 401778CB, 401176BD, 401914PR, 400654YW, 401057SS, 401203MP, 400483DP, 401295HB, 400295PS, 401025SM, 400677HD, 401012TP, 401287CF, 400863SS, 401413RG, 400128MJ, 401056TJ, 401135CS, 400879DS, 401681MS, 401554VN, 400266BA, 401932GN, 401453OL, 400540BM, 401480PG, 400923OA, 400668TD, 401362ME | | Known Genes | COL4A6 | | 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) | esv3577038
| | Frequency | | Sample Size | 873 | | Observed Gain | 94 | | Observed Loss | 0 | | Observed Complex | 0 | | Frequency | n/a |
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