esv12565
- Organism: Homo sapiens
- Study:estd20 (Conrad et al. 2009)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:9
- Validation:Yes
- Clinical Assertions: No
- Region Size:37,660
- Publication(s):Conrad et al. 2009
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 592 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 593 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 212 SVs from 26 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
esv12565 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 10,413,490 | 10,451,149 |
esv12565 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 10,566,089 | 10,603,748 |
esv12565 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 10,457,356 | 10,495,015 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
essv46494 | copy number loss | NA19129 | Oligo aCGH | Probe signal intensity | 1,564 |
essv54992 | copy number loss | NA19099 | Oligo aCGH | Probe signal intensity | 1,498 |
essv61985 | copy number loss | NA12239 | Oligo aCGH | Probe signal intensity | 1,252 |
essv49726 | copy number loss | NA18517 | Oligo aCGH | Probe signal intensity | 1,365 |
essv76352 | copy number loss | NA12414 | Oligo aCGH | Probe signal intensity | 1,122 |
essv82362 | copy number loss | NA19114 | Oligo aCGH | Probe signal intensity | 1,473 |
essv58989 | copy number loss | NA19108 | Oligo aCGH | Probe signal intensity | 1,563 |
essv79352 | copy number loss | NA12749 | Oligo aCGH | Probe signal intensity | 1,232 |
essv32326 | copy number loss | NA19147 | Oligo aCGH | Probe signal intensity | 1,541 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
essv46494 | Remapped | Perfect | NC_000012.12:g.(?_ 10413490)_(1044679 8_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 10,413,490 | 10,446,798 |
essv54992 | Remapped | Perfect | NC_000012.12:g.(?_ 10414458)_(1044636 0_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 10,414,458 | 10,446,360 |
essv61985 | Remapped | Perfect | NC_000012.12:g.(?_ 10416563)_(1044363 7_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 10,416,563 | 10,443,637 |
essv49726 | Remapped | Perfect | NC_000012.12:g.(?_ 10416659)_(1044642 3_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 10,416,659 | 10,446,423 |
essv76352 | Remapped | Perfect | NC_000012.12:g.(?_ 10416732)_(1044664 5_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 10,416,732 | 10,446,645 |
essv82362 | Remapped | Perfect | NC_000012.12:g.(?_ 10416732)_(1044679 8_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 10,416,732 | 10,446,798 |
essv58989 | Remapped | Perfect | NC_000012.12:g.(?_ 10416732)_(1045114 9_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 10,416,732 | 10,451,149 |
essv79352 | Remapped | Perfect | NC_000012.12:g.(?_ 10418472)_(1044449 8_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 10,418,472 | 10,444,498 |
essv32326 | Remapped | Perfect | NC_000012.12:g.(?_ 10418807)_(1044620 0_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 10,418,807 | 10,446,200 |
essv46494 | Remapped | Perfect | NC_000012.11:g.(?_ 10566089)_(1059939 7_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 10,566,089 | 10,599,397 |
essv54992 | Remapped | Perfect | NC_000012.11:g.(?_ 10567057)_(1059895 9_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 10,567,057 | 10,598,959 |
essv61985 | Remapped | Perfect | NC_000012.11:g.(?_ 10569162)_(1059623 6_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 10,569,162 | 10,596,236 |
essv49726 | Remapped | Perfect | NC_000012.11:g.(?_ 10569258)_(1059902 2_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 10,569,258 | 10,599,022 |
essv76352 | Remapped | Perfect | NC_000012.11:g.(?_ 10569331)_(1059924 4_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 10,569,331 | 10,599,244 |
essv82362 | Remapped | Perfect | NC_000012.11:g.(?_ 10569331)_(1059939 7_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 10,569,331 | 10,599,397 |
essv58989 | Remapped | Perfect | NC_000012.11:g.(?_ 10569331)_(1060374 8_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 10,569,331 | 10,603,748 |
essv79352 | Remapped | Perfect | NC_000012.11:g.(?_ 10571071)_(1059709 7_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 10,571,071 | 10,597,097 |
essv32326 | Remapped | Perfect | NC_000012.11:g.(?_ 10571406)_(1059879 9_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 10,571,406 | 10,598,799 |
essv46494 | Submitted genomic | NC_000012.10:g.(?_ 10457356)_(1049066 4_?)del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 10,457,356 | 10,490,664 | ||
essv54992 | Submitted genomic | NC_000012.10:g.(?_ 10458324)_(1049022 6_?)del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 10,458,324 | 10,490,226 | ||
essv61985 | Submitted genomic | NC_000012.10:g.(?_ 10460429)_(1048750 3_?)del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 10,460,429 | 10,487,503 | ||
essv49726 | Submitted genomic | NC_000012.10:g.(?_ 10460525)_(1049028 9_?)del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 10,460,525 | 10,490,289 | ||
essv76352 | Submitted genomic | NC_000012.10:g.(?_ 10460598)_(1049051 1_?)del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 10,460,598 | 10,490,511 | ||
essv82362 | Submitted genomic | NC_000012.10:g.(?_ 10460598)_(1049066 4_?)del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 10,460,598 | 10,490,664 | ||
essv58989 | Submitted genomic | NC_000012.10:g.(?_ 10460598)_(1049501 5_?)del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 10,460,598 | 10,495,015 | ||
essv79352 | Submitted genomic | NC_000012.10:g.(?_ 10462338)_(1048836 4_?)del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 10,462,338 | 10,488,364 | ||
essv32326 | Submitted genomic | NC_000012.10:g.(?_ 10462673)_(1049006 6_?)del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 10,462,673 | 10,490,066 |
Validation Information
Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
---|---|---|---|---|---|
essv61985 | 2 | NA12239 | Oligo aCGH | Probe signal intensity | Pass |
essv76352 | 2 | NA12414 | Oligo aCGH | Probe signal intensity | Pass |
essv79352 | 2 | NA12749 | Oligo aCGH | Probe signal intensity | Pass |
essv49726 | 2 | NA18517 | Oligo aCGH | Probe signal intensity | Pass |
essv54992 | 2 | NA19099 | Oligo aCGH | Probe signal intensity | Pass |
essv58989 | 2 | NA19108 | Oligo aCGH | Probe signal intensity | Pass |
essv82362 | 2 | NA19114 | Oligo aCGH | Probe signal intensity | Pass |
essv46494 | 2 | NA19129 | Oligo aCGH | Probe signal intensity | Pass |
essv32326 | 2 | NA19147 | Oligo aCGH | Probe signal intensity | Pass |