esv10276
- Organism: Homo sapiens
- Study:estd20 (Conrad et al. 2009)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:23
- Validation:Yes
- Clinical Assertions: No
- Region Size:18,490
- 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: 173 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 173 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 61 SVs from 16 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv10276 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 126,874,619 | 126,893,108 |
| esv10276 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 126,514,673 | 126,533,162 |
| esv10276 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 126,301,909 | 126,320,398 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv59355 | copy number loss | NA19108 | Oligo aCGH | Probe signal intensity | 1,563 |
| essv65519 | copy number loss | NA19240 | Oligo aCGH | Probe signal intensity | 1,563 |
| essv40073 | copy number gain | NA12878 | Oligo aCGH | Probe signal intensity | 1,172 |
| essv56069 | copy number loss | NA12776 | Oligo aCGH | Probe signal intensity | 1,114 |
| essv47392 | copy number loss | NA18861 | Oligo aCGH | Probe signal intensity | 1,407 |
| essv69618 | copy number loss | NA12044 | Oligo aCGH | Probe signal intensity | 1,055 |
| essv33114 | copy number loss | NA19147 | Oligo aCGH | Probe signal intensity | 1,541 |
| essv68378 | copy number loss | NA18858 | Oligo aCGH | Probe signal intensity | 1,507 |
| essv53974 | copy number loss | NA18508 | Oligo aCGH | Probe signal intensity | 1,478 |
| essv73771 | copy number loss | NA12156 | Oligo aCGH | Probe signal intensity | 1,085 |
| essv70596 | copy number loss | NA18916 | Oligo aCGH | Probe signal intensity | 1,538 |
| essv80325 | copy number loss | NA11995 | Oligo aCGH | Probe signal intensity | 1,228 |
| essv38625 | copy number loss | NA19257 | Oligo aCGH | Probe signal intensity | 1,254 |
| essv36163 | copy number loss | NA18907 | Oligo aCGH | Probe signal intensity | 1,412 |
| essv43263 | copy number loss | NA18909 | Oligo aCGH | Probe signal intensity | 1,535 |
| essv59785 | copy number loss | NA18523 | Oligo aCGH | Probe signal intensity | 1,446 |
| essv77201 | copy number loss | NA18511 | Oligo aCGH | Probe signal intensity | 986 |
| essv81818 | copy number loss | NA19114 | Oligo aCGH | Probe signal intensity | 1,473 |
| essv64539 | copy number loss | NA07045 | Oligo aCGH | Probe signal intensity | 1,341 |
| essv78047 | copy number loss | NA06985 | Oligo aCGH | Probe signal intensity | 1,144 |
| essv39172 | copy number loss | NA12287 | Oligo aCGH | Probe signal intensity | 1,073 |
| essv55333 | copy number loss | NA19099 | Oligo aCGH | Probe signal intensity | 1,498 |
| essv76237 | copy number gain | NA12414 | Oligo aCGH | Probe signal intensity | 1,122 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv59355 | Remapped | Perfect | NC_000007.14:g.(?_ 126873946)_(126891 502_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 126,873,946 | 126,891,502 |
| essv65519 | Remapped | Perfect | NC_000007.14:g.(?_ 126874289)_(126892 098_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 126,874,289 | 126,892,098 |
| essv40073 | Remapped | Perfect | NC_000007.14:g.(?_ 126874619)_(126894 937_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 126,874,619 | 126,894,937 |
| essv56069 | Remapped | Perfect | NC_000007.14:g.(?_ 126874655)_(126891 991_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 126,874,655 | 126,891,991 |
| essv47392 | Remapped | Perfect | NC_000007.14:g.(?_ 126874696)_(126891 502_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 126,874,696 | 126,891,502 |
| essv69618 | Remapped | Perfect | NC_000007.14:g.(?_ 126874696)_(126892 098_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 126,874,696 | 126,892,098 |
| essv33114 | Remapped | Perfect | NC_000007.14:g.(?_ 126874741)_(126891 626_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 126,874,741 | 126,891,626 |
| essv68378 | Remapped | Perfect | NC_000007.14:g.(?_ 126874741)_(126891 626_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 126,874,741 | 126,891,626 |
| essv53974 | Remapped | Perfect | NC_000007.14:g.(?_ 126874741)_(126891 849_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 126,874,741 | 126,891,849 |
| essv73771 | Remapped | Perfect | NC_000007.14:g.(?_ 126874741)_(126891 991_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 126,874,741 | 126,891,991 |
| essv70596 | Remapped | Perfect | NC_000007.14:g.(?_ 126874741)_(126893 108_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 126,874,741 | 126,893,108 |
| essv80325 | Remapped | Perfect | NC_000007.14:g.(?_ 126874741)_(126893 885_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 126,874,741 | 126,893,885 |
| essv38625 | Remapped | Perfect | NC_000007.14:g.(?_ 126874964)_(126892 098_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 126,874,964 | 126,892,098 |
| essv36163 | Remapped | Perfect | NC_000007.14:g.(?_ 126874964)_(126893 047_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 126,874,964 | 126,893,047 |
| essv43263 | Remapped | Perfect | NC_000007.14:g.(?_ 126875239)_(126891 991_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 126,875,239 | 126,891,991 |
| essv59785 | Remapped | Perfect | NC_000007.14:g.(?_ 126875239)_(126891 991_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 126,875,239 | 126,891,991 |
| essv77201 | Remapped | Perfect | NC_000007.14:g.(?_ 126875239)_(126891 991_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 126,875,239 | 126,891,991 |
| essv81818 | Remapped | Perfect | NC_000007.14:g.(?_ 126875239)_(126891 991_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 126,875,239 | 126,891,991 |
| essv64539 | Remapped | Perfect | NC_000007.14:g.(?_ 126875325)_(126891 423_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 126,875,325 | 126,891,423 |
| essv78047 | Remapped | Perfect | NC_000007.14:g.(?_ 126875325)_(126893 108_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 126,875,325 | 126,893,108 |
| essv39172 | Remapped | Perfect | NC_000007.14:g.(?_ 126875392)_(126893 047_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 126,875,392 | 126,893,047 |
| essv55333 | Remapped | Perfect | NC_000007.14:g.(?_ 126875958)_(126891 991_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 126,875,958 | 126,891,991 |
| essv76237 | Remapped | Perfect | NC_000007.14:g.(?_ 126878844)_(126891 943_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 126,878,844 | 126,891,943 |
| essv59355 | Remapped | Perfect | NC_000007.13:g.(?_ 126514000)_(126531 556_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 126,514,000 | 126,531,556 |
| essv65519 | Remapped | Perfect | NC_000007.13:g.(?_ 126514343)_(126532 152_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 126,514,343 | 126,532,152 |
| essv40073 | Remapped | Perfect | NC_000007.13:g.(?_ 126514673)_(126534 991_?)dup | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 126,514,673 | 126,534,991 |
| essv56069 | Remapped | Perfect | NC_000007.13:g.(?_ 126514709)_(126532 045_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 126,514,709 | 126,532,045 |
| essv47392 | Remapped | Perfect | NC_000007.13:g.(?_ 126514750)_(126531 556_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 126,514,750 | 126,531,556 |
| essv69618 | Remapped | Perfect | NC_000007.13:g.(?_ 126514750)_(126532 152_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 126,514,750 | 126,532,152 |
| essv33114 | Remapped | Perfect | NC_000007.13:g.(?_ 126514795)_(126531 680_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 126,514,795 | 126,531,680 |
| essv68378 | Remapped | Perfect | NC_000007.13:g.(?_ 126514795)_(126531 680_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 126,514,795 | 126,531,680 |
| essv53974 | Remapped | Perfect | NC_000007.13:g.(?_ 126514795)_(126531 903_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 126,514,795 | 126,531,903 |
| essv73771 | Remapped | Perfect | NC_000007.13:g.(?_ 126514795)_(126532 045_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 126,514,795 | 126,532,045 |
| essv70596 | Remapped | Perfect | NC_000007.13:g.(?_ 126514795)_(126533 162_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 126,514,795 | 126,533,162 |
| essv80325 | Remapped | Perfect | NC_000007.13:g.(?_ 126514795)_(126533 939_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 126,514,795 | 126,533,939 |
| essv38625 | Remapped | Perfect | NC_000007.13:g.(?_ 126515018)_(126532 152_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 126,515,018 | 126,532,152 |
| essv36163 | Remapped | Perfect | NC_000007.13:g.(?_ 126515018)_(126533 101_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 126,515,018 | 126,533,101 |
| essv43263 | Remapped | Perfect | NC_000007.13:g.(?_ 126515293)_(126532 045_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 126,515,293 | 126,532,045 |
| essv59785 | Remapped | Perfect | NC_000007.13:g.(?_ 126515293)_(126532 045_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 126,515,293 | 126,532,045 |
| essv77201 | Remapped | Perfect | NC_000007.13:g.(?_ 126515293)_(126532 045_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 126,515,293 | 126,532,045 |
| essv81818 | Remapped | Perfect | NC_000007.13:g.(?_ 126515293)_(126532 045_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 126,515,293 | 126,532,045 |
| essv64539 | Remapped | Perfect | NC_000007.13:g.(?_ 126515379)_(126531 477_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 126,515,379 | 126,531,477 |
| essv78047 | Remapped | Perfect | NC_000007.13:g.(?_ 126515379)_(126533 162_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 126,515,379 | 126,533,162 |
| essv39172 | Remapped | Perfect | NC_000007.13:g.(?_ 126515446)_(126533 101_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 126,515,446 | 126,533,101 |
| essv55333 | Remapped | Perfect | NC_000007.13:g.(?_ 126516012)_(126532 045_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 126,516,012 | 126,532,045 |
| essv76237 | Remapped | Perfect | NC_000007.13:g.(?_ 126518898)_(126531 997_?)dup | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 126,518,898 | 126,531,997 |
| essv59355 | Submitted genomic | NC_000007.12:g.(?_ 126301236)_(126318 792_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 126,301,236 | 126,318,792 | ||
| essv65519 | Submitted genomic | NC_000007.12:g.(?_ 126301579)_(126319 388_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 126,301,579 | 126,319,388 | ||
| essv40073 | Submitted genomic | NC_000007.12:g.(?_ 126301909)_(126322 227_?)dup | NCBI36 (hg18) | NC_000007.12 | Chr7 | 126,301,909 | 126,322,227 | ||
| essv56069 | Submitted genomic | NC_000007.12:g.(?_ 126301945)_(126319 281_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 126,301,945 | 126,319,281 | ||
| essv47392 | Submitted genomic | NC_000007.12:g.(?_ 126301986)_(126318 792_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 126,301,986 | 126,318,792 | ||
| essv69618 | Submitted genomic | NC_000007.12:g.(?_ 126301986)_(126319 388_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 126,301,986 | 126,319,388 | ||
| essv33114 | Submitted genomic | NC_000007.12:g.(?_ 126302031)_(126318 916_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 126,302,031 | 126,318,916 | ||
| essv68378 | Submitted genomic | NC_000007.12:g.(?_ 126302031)_(126318 916_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 126,302,031 | 126,318,916 | ||
| essv53974 | Submitted genomic | NC_000007.12:g.(?_ 126302031)_(126319 139_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 126,302,031 | 126,319,139 | ||
| essv73771 | Submitted genomic | NC_000007.12:g.(?_ 126302031)_(126319 281_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 126,302,031 | 126,319,281 | ||
| essv70596 | Submitted genomic | NC_000007.12:g.(?_ 126302031)_(126320 398_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 126,302,031 | 126,320,398 | ||
| essv80325 | Submitted genomic | NC_000007.12:g.(?_ 126302031)_(126321 175_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 126,302,031 | 126,321,175 | ||
| essv38625 | Submitted genomic | NC_000007.12:g.(?_ 126302254)_(126319 388_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 126,302,254 | 126,319,388 | ||
| essv36163 | Submitted genomic | NC_000007.12:g.(?_ 126302254)_(126320 337_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 126,302,254 | 126,320,337 | ||
| essv43263 | Submitted genomic | NC_000007.12:g.(?_ 126302529)_(126319 281_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 126,302,529 | 126,319,281 | ||
| essv59785 | Submitted genomic | NC_000007.12:g.(?_ 126302529)_(126319 281_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 126,302,529 | 126,319,281 | ||
| essv77201 | Submitted genomic | NC_000007.12:g.(?_ 126302529)_(126319 281_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 126,302,529 | 126,319,281 | ||
| essv81818 | Submitted genomic | NC_000007.12:g.(?_ 126302529)_(126319 281_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 126,302,529 | 126,319,281 | ||
| essv64539 | Submitted genomic | NC_000007.12:g.(?_ 126302615)_(126318 713_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 126,302,615 | 126,318,713 | ||
| essv78047 | Submitted genomic | NC_000007.12:g.(?_ 126302615)_(126320 398_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 126,302,615 | 126,320,398 | ||
| essv39172 | Submitted genomic | NC_000007.12:g.(?_ 126302682)_(126320 337_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 126,302,682 | 126,320,337 | ||
| essv55333 | Submitted genomic | NC_000007.12:g.(?_ 126303248)_(126319 281_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 126,303,248 | 126,319,281 | ||
| essv76237 | Submitted genomic | NC_000007.12:g.(?_ 126306134)_(126319 233_?)dup | NCBI36 (hg18) | NC_000007.12 | Chr7 | 126,306,134 | 126,319,233 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv78047 | 2 | NA06985 | Oligo aCGH | Probe signal intensity | Pass |
| essv64539 | 2 | NA07045 | Oligo aCGH | Probe signal intensity | Pass |
| essv80325 | 2 | NA11995 | Oligo aCGH | Probe signal intensity | Pass |
| essv69618 | 2 | NA12044 | Oligo aCGH | Probe signal intensity | Pass |
| essv73771 | 2 | NA12156 | Oligo aCGH | Probe signal intensity | Pass |
| essv39172 | 2 | NA12287 | Oligo aCGH | Probe signal intensity | Pass |
| essv76237 | 2 | NA12414 | Oligo aCGH | Probe signal intensity | Pass |
| essv56069 | 2 | NA12776 | Oligo aCGH | Probe signal intensity | Pass |
| essv40073 | 2 | NA12878 | Oligo aCGH | Probe signal intensity | Pass |
| essv53974 | 2 | NA18508 | Oligo aCGH | Probe signal intensity | Pass |
| essv77201 | 2 | NA18511 | Oligo aCGH | Probe signal intensity | Pass |
| essv59785 | 2 | NA18523 | Oligo aCGH | Probe signal intensity | Pass |
| essv68378 | 2 | NA18858 | Oligo aCGH | Probe signal intensity | Pass |
| essv47392 | 2 | NA18861 | Oligo aCGH | Probe signal intensity | Pass |
| essv36163 | 2 | NA18907 | Oligo aCGH | Probe signal intensity | Pass |
| essv43263 | 2 | NA18909 | Oligo aCGH | Probe signal intensity | Pass |
| essv70596 | 2 | NA18916 | Oligo aCGH | Probe signal intensity | Pass |
| essv55333 | 2 | NA19099 | Oligo aCGH | Probe signal intensity | Pass |
| essv59355 | 2 | NA19108 | Oligo aCGH | Probe signal intensity | Pass |
| essv81818 | 2 | NA19114 | Oligo aCGH | Probe signal intensity | Pass |
| essv33114 | 2 | NA19147 | Oligo aCGH | Probe signal intensity | Pass |
| essv65519 | 2 | NA19240 | Oligo aCGH | Probe signal intensity | Pass |
| essv38625 | 2 | NA19257 | Oligo aCGH | Probe signal intensity | Pass |