Variant DetailsVariant: esv2732071 Internal ID | 9966389 | Landmark | | Location Information | | Cytoband | 6p12.3 | Allele length | Assembly | Allele length | hg38 | 348 | hg19 | 348 |
| Variant Type | CNV deletion | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | essv6798881, essv6957034, essv6687259, essv6963756, essv6890236, essv6974803, essv6893549, essv6826429, essv6782233, essv6794669, essv6855248, essv6860886, essv6808438, essv6830193, essv6822453, essv6818239, essv6865608, essv6849158, essv6786418, essv6837449, essv6855354, essv6778218, essv6899721, essv6907582, essv6701097, essv6676589, essv6671131, essv6928773, essv6727132, essv6930456 | Samples | SSM100, SSM083, SSM071, SSM027, SSM075, SSM046, SSM011, SSM079, SSM087, SSM097, SSM039, SSM088, SSM069, SSM029, SSM026, SSM089, SSM035, SSM032, SSM003, SSM031, SSM067, SSM014, SSM086, SSM068, SSM081, SSM072, SSM020, SSM078, SSM080, SSM098 | Known Genes | PKHD1 | 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) | esv2732071
| Frequency | Sample Size | 96 | Observed Gain | 0 | Observed Loss | 30 | Observed Complex | 0 | Frequency | n/a |
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