Variant DetailsVariant: esv3608989 Internal ID | 6649222 | Landmark | | Location Information | | Cytoband | 6p12.2 | Allele length | Assembly | Allele length | hg38 | 5801 | hg19 | 5801 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | essv12349564, essv12349542, essv12349551, essv12349569, essv12349578, essv12349535, essv12349558, essv12349533, essv12349567, essv12349577, essv12349584, essv12349538, essv12349547, essv12349541, essv12349524, essv12349573, essv12349539, essv12349549, essv12349550, essv12349579, essv12349532, essv12349570, essv12349565, essv12349581, essv12349553, essv12349529, essv12349526, essv12349574, essv12349531, essv12349523, essv12349552, essv12349559, essv12349561, essv12349534, essv12349543, essv12349527, essv12349530, essv12349562, essv12349540, essv12349556, essv12349563, essv12349576, essv12349546, essv12349537, essv12349544, essv12349560, essv12349555, essv12349545, essv12349568, essv12349525, essv12349580, essv12349566, essv12349583, essv12349536, essv12349522, essv12349582, essv12349548, essv12349557, essv12349572, essv12349528, essv12349554, essv12349571, essv12349575, essv12349521 | Samples | HG00235, HG01521, NA12842, NA19794, NA11995, NA11829, HG00384, NA10851, HG00187, NA11920, NA11931, HG02231, HG00306, HG00181, HG01486, HG01632, HG01522, HG00327, HG00271, HG01350, HG00356, NA20796, NA20798, HG00173, NA20795, NA20822, HG00369, NA20759, NA20539, HG00262, HG01767, HG02471, NA20811, HG01121, HG00323, NA19921, HG00108, NA20535, NA20787, HG00145, NA12003, HG01271, HG00132, HG01498, HG01615, NA19774, HG01791, HG01101, HG00276, HG02256, HG01679, NA12144, HG01956, NA20773, HG00357, NA20520, HG01491, NA20786, NA20758, HG00372, NA20886, NA20503, NA20763, HG01786 | Known Genes | PKHD1 | Method | Sequencing | Analysis | | Platform | Multiple platforms | Comments | | Reference | 1000_Genomes_Consortium_Phase_3 | Pubmed ID | 21293372 | Accession Number(s) | esv3608989
| Frequency | Sample Size | 2504 | Observed Gain | 0 | Observed Loss | 64 | Observed Complex | 0 | Frequency | n/a |
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