Variant DetailsVariant: esv2663435Internal ID | 9582854 | Landmark | | Location Information | | Cytoband | 6p12.2 | Allele length | Assembly | Allele length | hg38 | 5743 | hg19 | 5743 |
| Variant Type | CNV deletion | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | essv5396820, essv5500827, essv6579949, essv6150820, essv5487356, essv5838340, essv5667010, essv6186488, essv5483553, essv6062666, essv5424995, essv5592781, essv5738220, essv5646518, essv6039880, essv5818260, essv6362965, essv5715237 | Samples | HG00306, HG00327, HG00271, HG01350, NA20796, NA20798, HG00173, HG00270, HG00262, NA20811, HG00323, NA19921, HG00108, HG01101, HG00276, HG00357, HG00372, NA20503 | Known Genes | PKHD1 | Method | Merging | Analysis | No reference, merging analysis | Platform | Merging | Comments | High quality site | Reference | 1000_Genomes_Consortium_Phase_1 | Pubmed ID | 23128226 | Accession Number(s) | esv2663435
| Frequency | Sample Size | 1151 | Observed Gain | 0 | Observed Loss | 18 | Observed Complex | 0 | Frequency | n/a |
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