Variant DetailsVariant: esv2723777Internal ID | 9958077 | Landmark | | Location Information | | Cytoband | 21q22.3 | Allele length | Assembly | Allele length | hg38 | 595 | hg19 | 595 |
| Variant Type | CNV deletion | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | dgv721e201 | Supporting Variants | essv6776857, essv6710534, essv6967843, essv6843835, essv6883214, essv6828940, essv6937604, essv6721930, essv6718094, essv6933234, essv6675140, essv6836106, essv6696953, essv6725777 | Samples | SSM027, SSM045, SSM041, SSM084, SSM021, SSM094, SSM031, SSM044, SSM066, SSM082, SSM020, SSM080, SSM037, SSM043 | Known Genes | COL18A1 | 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) | esv2723777
| Frequency | Sample Size | 96 | Observed Gain | 0 | Observed Loss | 14 | Observed Complex | 0 | Frequency | n/a |
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