Variant DetailsVariant: esv2715058Internal ID | 9949343 | Landmark | | Location Information | | Cytoband | 16q24.3 | Allele length | Assembly | Allele length | hg38 | 1294 | hg19 | 1294 |
| Variant Type | CNV deletion | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | essv6828319, essv6709996, essv6831901, essv6838965, essv6824234, essv6792489, essv6796663, essv6953894, essv6839251, essv6901870, essv6966775, essv6776281, essv6788394, essv6732755, essv6665665, essv6971472, essv6761384 | Samples | SSM010, SSM027, SSM061, SSM025, SSM071, SSM083, SSM041, SSM012, SSM066, SSM028, SSM029, SSM047, SSM069, SSM079, SSM081, SSM070, SSM080 | Known Genes | GALNS | Method | Sequencing | Analysis | Breakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads | Platform | Illumina HiSeq 2000 | Comments | | Reference | Wong_et_al_2012b | Pubmed ID | 23290073 | Accession Number(s) | esv2715058
| Frequency | Sample Size | 96 | Observed Gain | 0 | Observed Loss | 17 | Observed Complex | 0 | Frequency | n/a |
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