esv32778
- Organism: Homo sapiens
- Study:estd24 (de Smith et al. 2007)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI35 (hg17)
- Variant Calls:24
- Validation:Not tested
- Clinical Assertions: No
- Region Size:12,382
- Publication(s):de Smith et al. 2007
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: 931 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 931 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 15 SVs from 8 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv32778 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 78,337,824 | 78,350,205 |
| esv32778 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 78,371,721 | 78,384,102 |
| esv32778 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000016.8 | Chr16 | 76,929,222 | 76,941,603 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv100530 | copy number gain | 22298 | Oligo aCGH | Probe signal intensity | 176 |
| essv100912 | copy number loss | 21656 | Oligo aCGH | Probe signal intensity | 288 |
| essv101268 | copy number gain | 21618 | Oligo aCGH | Probe signal intensity | 173 |
| essv92563 | copy number gain | 22233 | Oligo aCGH | Probe signal intensity | 161 |
| essv92744 | copy number gain | 21944 | Oligo aCGH | Probe signal intensity | 167 |
| essv93066 | copy number loss | 21863 | Oligo aCGH | Probe signal intensity | 176 |
| essv93937 | copy number loss | 21634 | Oligo aCGH | Probe signal intensity | 176 |
| essv94080 | copy number loss | 21802 | Oligo aCGH | Probe signal intensity | 176 |
| essv94870 | copy number gain | 22231 | Oligo aCGH | Probe signal intensity | 206 |
| essv95136 | copy number gain | 21721 | Oligo aCGH | Probe signal intensity | 184 |
| essv95406 | copy number gain | 21872 | Oligo aCGH | Probe signal intensity | 177 |
| essv95518 | copy number gain | 21847 | Oligo aCGH | Probe signal intensity | 152 |
| essv96628 | copy number gain | 22011 | Oligo aCGH | Probe signal intensity | 172 |
| essv97282 | copy number gain | 22075 | Oligo aCGH | Probe signal intensity | 208 |
| essv97826 | copy number loss | 21837 | Oligo aCGH | Probe signal intensity | 179 |
| essv98179 | copy number loss | 21772 | Oligo aCGH | Probe signal intensity | 211 |
| essv98480 | copy number gain | 22352 | Oligo aCGH | Probe signal intensity | 185 |
| essv98571 | copy number loss | 22085 | Oligo aCGH | Probe signal intensity | 128 |
| essv99466 | copy number gain | 22335 | Oligo aCGH | Probe signal intensity | 206 |
| essv101391 | copy number loss | 21805 | Oligo aCGH | Probe signal intensity | 154 |
| essv101574 | copy number loss | 21603 | Oligo aCGH | Probe signal intensity | 188 |
| essv94777 | copy number loss | 21791 | Oligo aCGH | Probe signal intensity | 198 |
| essv95811 | copy number loss | 21911 | Oligo aCGH | Probe signal intensity | 167 |
| essv100078 | copy number gain | 22086 | Oligo aCGH | Probe signal intensity | 362 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv100530 | Remapped | Perfect | NC_000016.10:g.(78 337258_78337824)_( 78350205_78351113) dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 78,337,258 | 78,337,824 | 78,350,205 | 78,351,113 |
| essv100912 | Remapped | Perfect | NC_000016.10:g.(78 337258_78337824)_( 78350205_78351113) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 78,337,258 | 78,337,824 | 78,350,205 | 78,351,113 |
| essv101268 | Remapped | Perfect | NC_000016.10:g.(78 337258_78337824)_( 78350205_78351113) dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 78,337,258 | 78,337,824 | 78,350,205 | 78,351,113 |
| essv92563 | Remapped | Perfect | NC_000016.10:g.(78 337258_78337824)_( 78350205_78351113) dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 78,337,258 | 78,337,824 | 78,350,205 | 78,351,113 |
| essv92744 | Remapped | Perfect | NC_000016.10:g.(78 337258_78337824)_( 78350205_78351113) dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 78,337,258 | 78,337,824 | 78,350,205 | 78,351,113 |
| essv93066 | Remapped | Perfect | NC_000016.10:g.(78 337258_78337824)_( 78350205_78351113) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 78,337,258 | 78,337,824 | 78,350,205 | 78,351,113 |
| essv93937 | Remapped | Perfect | NC_000016.10:g.(78 337258_78337824)_( 78350205_78351113) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 78,337,258 | 78,337,824 | 78,350,205 | 78,351,113 |
| essv94080 | Remapped | Perfect | NC_000016.10:g.(78 337258_78337824)_( 78350205_78351113) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 78,337,258 | 78,337,824 | 78,350,205 | 78,351,113 |
| essv94870 | Remapped | Perfect | NC_000016.10:g.(78 337258_78337824)_( 78350205_78351113) dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 78,337,258 | 78,337,824 | 78,350,205 | 78,351,113 |
| essv95136 | Remapped | Perfect | NC_000016.10:g.(78 337258_78337824)_( 78350205_78351113) dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 78,337,258 | 78,337,824 | 78,350,205 | 78,351,113 |
| essv95406 | Remapped | Perfect | NC_000016.10:g.(78 337258_78337824)_( 78350205_78351113) dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 78,337,258 | 78,337,824 | 78,350,205 | 78,351,113 |
| essv95518 | Remapped | Perfect | NC_000016.10:g.(78 337258_78337824)_( 78350205_78351113) dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 78,337,258 | 78,337,824 | 78,350,205 | 78,351,113 |
| essv96628 | Remapped | Perfect | NC_000016.10:g.(78 337258_78337824)_( 78350205_78351113) dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 78,337,258 | 78,337,824 | 78,350,205 | 78,351,113 |
| essv97282 | Remapped | Perfect | NC_000016.10:g.(78 337258_78337824)_( 78350205_78351113) dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 78,337,258 | 78,337,824 | 78,350,205 | 78,351,113 |
| essv97826 | Remapped | Perfect | NC_000016.10:g.(78 337258_78337824)_( 78350205_78351113) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 78,337,258 | 78,337,824 | 78,350,205 | 78,351,113 |
| essv98179 | Remapped | Perfect | NC_000016.10:g.(78 337258_78337824)_( 78350205_78351113) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 78,337,258 | 78,337,824 | 78,350,205 | 78,351,113 |
| essv98480 | Remapped | Perfect | NC_000016.10:g.(78 337258_78337824)_( 78350205_78351113) dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 78,337,258 | 78,337,824 | 78,350,205 | 78,351,113 |
| essv98571 | Remapped | Perfect | NC_000016.10:g.(78 337258_78337824)_( 78350205_78351113) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 78,337,258 | 78,337,824 | 78,350,205 | 78,351,113 |
| essv99466 | Remapped | Perfect | NC_000016.10:g.(78 337258_78337824)_( 78350205_78351113) dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 78,337,258 | 78,337,824 | 78,350,205 | 78,351,113 |
| essv101391 | Remapped | Perfect | NC_000016.10:g.(78 337824_78338229)_( 78350205_78351113) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 78,337,824 | 78,338,229 | 78,350,205 | 78,351,113 |
| essv101574 | Remapped | Perfect | NC_000016.10:g.(78 337824_78338229)_( 78350205_78351113) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 78,337,824 | 78,338,229 | 78,350,205 | 78,351,113 |
| essv94777 | Remapped | Perfect | NC_000016.10:g.(78 337824_78338229)_( 78350205_78351113) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 78,337,824 | 78,338,229 | 78,350,205 | 78,351,113 |
| essv95811 | Remapped | Perfect | NC_000016.10:g.(78 337824_78338229)_( 78350205_78351113) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 78,337,824 | 78,338,229 | 78,350,205 | 78,351,113 |
| essv100078 | Remapped | Perfect | NC_000016.10:g.(78 338229_78338583)_( 78350205_78351113) dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 78,338,229 | 78,338,583 | 78,350,205 | 78,351,113 |
| essv100530 | Remapped | Perfect | NC_000016.9:g.(783 71155_78371721)_(7 8384102_78385010)d up | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 78,371,155 | 78,371,721 | 78,384,102 | 78,385,010 |
| essv100912 | Remapped | Perfect | NC_000016.9:g.(783 71155_78371721)_(7 8384102_78385010)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 78,371,155 | 78,371,721 | 78,384,102 | 78,385,010 |
| essv101268 | Remapped | Perfect | NC_000016.9:g.(783 71155_78371721)_(7 8384102_78385010)d up | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 78,371,155 | 78,371,721 | 78,384,102 | 78,385,010 |
| essv92563 | Remapped | Perfect | NC_000016.9:g.(783 71155_78371721)_(7 8384102_78385010)d up | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 78,371,155 | 78,371,721 | 78,384,102 | 78,385,010 |
| essv92744 | Remapped | Perfect | NC_000016.9:g.(783 71155_78371721)_(7 8384102_78385010)d up | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 78,371,155 | 78,371,721 | 78,384,102 | 78,385,010 |
| essv93066 | Remapped | Perfect | NC_000016.9:g.(783 71155_78371721)_(7 8384102_78385010)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 78,371,155 | 78,371,721 | 78,384,102 | 78,385,010 |
| essv93937 | Remapped | Perfect | NC_000016.9:g.(783 71155_78371721)_(7 8384102_78385010)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 78,371,155 | 78,371,721 | 78,384,102 | 78,385,010 |
| essv94080 | Remapped | Perfect | NC_000016.9:g.(783 71155_78371721)_(7 8384102_78385010)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 78,371,155 | 78,371,721 | 78,384,102 | 78,385,010 |
| essv94870 | Remapped | Perfect | NC_000016.9:g.(783 71155_78371721)_(7 8384102_78385010)d up | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 78,371,155 | 78,371,721 | 78,384,102 | 78,385,010 |
| essv95136 | Remapped | Perfect | NC_000016.9:g.(783 71155_78371721)_(7 8384102_78385010)d up | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 78,371,155 | 78,371,721 | 78,384,102 | 78,385,010 |
| essv95406 | Remapped | Perfect | NC_000016.9:g.(783 71155_78371721)_(7 8384102_78385010)d up | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 78,371,155 | 78,371,721 | 78,384,102 | 78,385,010 |
| essv95518 | Remapped | Perfect | NC_000016.9:g.(783 71155_78371721)_(7 8384102_78385010)d up | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 78,371,155 | 78,371,721 | 78,384,102 | 78,385,010 |
| essv96628 | Remapped | Perfect | NC_000016.9:g.(783 71155_78371721)_(7 8384102_78385010)d up | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 78,371,155 | 78,371,721 | 78,384,102 | 78,385,010 |
| essv97282 | Remapped | Perfect | NC_000016.9:g.(783 71155_78371721)_(7 8384102_78385010)d up | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 78,371,155 | 78,371,721 | 78,384,102 | 78,385,010 |
| essv97826 | Remapped | Perfect | NC_000016.9:g.(783 71155_78371721)_(7 8384102_78385010)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 78,371,155 | 78,371,721 | 78,384,102 | 78,385,010 |
| essv98179 | Remapped | Perfect | NC_000016.9:g.(783 71155_78371721)_(7 8384102_78385010)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 78,371,155 | 78,371,721 | 78,384,102 | 78,385,010 |
| essv98480 | Remapped | Perfect | NC_000016.9:g.(783 71155_78371721)_(7 8384102_78385010)d up | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 78,371,155 | 78,371,721 | 78,384,102 | 78,385,010 |
| essv98571 | Remapped | Perfect | NC_000016.9:g.(783 71155_78371721)_(7 8384102_78385010)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 78,371,155 | 78,371,721 | 78,384,102 | 78,385,010 |
| essv99466 | Remapped | Perfect | NC_000016.9:g.(783 71155_78371721)_(7 8384102_78385010)d up | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 78,371,155 | 78,371,721 | 78,384,102 | 78,385,010 |
| essv101391 | Remapped | Perfect | NC_000016.9:g.(783 71721_78372126)_(7 8384102_78385010)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 78,371,721 | 78,372,126 | 78,384,102 | 78,385,010 |
| essv101574 | Remapped | Perfect | NC_000016.9:g.(783 71721_78372126)_(7 8384102_78385010)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 78,371,721 | 78,372,126 | 78,384,102 | 78,385,010 |
| essv94777 | Remapped | Perfect | NC_000016.9:g.(783 71721_78372126)_(7 8384102_78385010)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 78,371,721 | 78,372,126 | 78,384,102 | 78,385,010 |
| essv95811 | Remapped | Perfect | NC_000016.9:g.(783 71721_78372126)_(7 8384102_78385010)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 78,371,721 | 78,372,126 | 78,384,102 | 78,385,010 |
| essv100078 | Remapped | Perfect | NC_000016.9:g.(783 72126_78372480)_(7 8384102_78385010)d up | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 78,372,126 | 78,372,480 | 78,384,102 | 78,385,010 |
| essv100530 | Submitted genomic | NC_000016.8:g.(769 28656_76929222)_(7 6941603_76942511)d up | NCBI35 (hg17) | NC_000016.8 | Chr16 | 76,928,656 | 76,929,222 | 76,941,603 | 76,942,511 | ||
| essv100912 | Submitted genomic | NC_000016.8:g.(769 28656_76929222)_(7 6941603_76942511)d el | NCBI35 (hg17) | NC_000016.8 | Chr16 | 76,928,656 | 76,929,222 | 76,941,603 | 76,942,511 | ||
| essv101268 | Submitted genomic | NC_000016.8:g.(769 28656_76929222)_(7 6941603_76942511)d up | NCBI35 (hg17) | NC_000016.8 | Chr16 | 76,928,656 | 76,929,222 | 76,941,603 | 76,942,511 | ||
| essv92563 | Submitted genomic | NC_000016.8:g.(769 28656_76929222)_(7 6941603_76942511)d up | NCBI35 (hg17) | NC_000016.8 | Chr16 | 76,928,656 | 76,929,222 | 76,941,603 | 76,942,511 | ||
| essv92744 | Submitted genomic | NC_000016.8:g.(769 28656_76929222)_(7 6941603_76942511)d up | NCBI35 (hg17) | NC_000016.8 | Chr16 | 76,928,656 | 76,929,222 | 76,941,603 | 76,942,511 | ||
| essv93066 | Submitted genomic | NC_000016.8:g.(769 28656_76929222)_(7 6941603_76942511)d el | NCBI35 (hg17) | NC_000016.8 | Chr16 | 76,928,656 | 76,929,222 | 76,941,603 | 76,942,511 | ||
| essv93937 | Submitted genomic | NC_000016.8:g.(769 28656_76929222)_(7 6941603_76942511)d el | NCBI35 (hg17) | NC_000016.8 | Chr16 | 76,928,656 | 76,929,222 | 76,941,603 | 76,942,511 | ||
| essv94080 | Submitted genomic | NC_000016.8:g.(769 28656_76929222)_(7 6941603_76942511)d el | NCBI35 (hg17) | NC_000016.8 | Chr16 | 76,928,656 | 76,929,222 | 76,941,603 | 76,942,511 | ||
| essv94870 | Submitted genomic | NC_000016.8:g.(769 28656_76929222)_(7 6941603_76942511)d up | NCBI35 (hg17) | NC_000016.8 | Chr16 | 76,928,656 | 76,929,222 | 76,941,603 | 76,942,511 | ||
| essv95136 | Submitted genomic | NC_000016.8:g.(769 28656_76929222)_(7 6941603_76942511)d up | NCBI35 (hg17) | NC_000016.8 | Chr16 | 76,928,656 | 76,929,222 | 76,941,603 | 76,942,511 | ||
| essv95406 | Submitted genomic | NC_000016.8:g.(769 28656_76929222)_(7 6941603_76942511)d up | NCBI35 (hg17) | NC_000016.8 | Chr16 | 76,928,656 | 76,929,222 | 76,941,603 | 76,942,511 | ||
| essv95518 | Submitted genomic | NC_000016.8:g.(769 28656_76929222)_(7 6941603_76942511)d up | NCBI35 (hg17) | NC_000016.8 | Chr16 | 76,928,656 | 76,929,222 | 76,941,603 | 76,942,511 | ||
| essv96628 | Submitted genomic | NC_000016.8:g.(769 28656_76929222)_(7 6941603_76942511)d up | NCBI35 (hg17) | NC_000016.8 | Chr16 | 76,928,656 | 76,929,222 | 76,941,603 | 76,942,511 | ||
| essv97282 | Submitted genomic | NC_000016.8:g.(769 28656_76929222)_(7 6941603_76942511)d up | NCBI35 (hg17) | NC_000016.8 | Chr16 | 76,928,656 | 76,929,222 | 76,941,603 | 76,942,511 | ||
| essv97826 | Submitted genomic | NC_000016.8:g.(769 28656_76929222)_(7 6941603_76942511)d el | NCBI35 (hg17) | NC_000016.8 | Chr16 | 76,928,656 | 76,929,222 | 76,941,603 | 76,942,511 | ||
| essv98179 | Submitted genomic | NC_000016.8:g.(769 28656_76929222)_(7 6941603_76942511)d el | NCBI35 (hg17) | NC_000016.8 | Chr16 | 76,928,656 | 76,929,222 | 76,941,603 | 76,942,511 | ||
| essv98480 | Submitted genomic | NC_000016.8:g.(769 28656_76929222)_(7 6941603_76942511)d up | NCBI35 (hg17) | NC_000016.8 | Chr16 | 76,928,656 | 76,929,222 | 76,941,603 | 76,942,511 | ||
| essv98571 | Submitted genomic | NC_000016.8:g.(769 28656_76929222)_(7 6941603_76942511)d el | NCBI35 (hg17) | NC_000016.8 | Chr16 | 76,928,656 | 76,929,222 | 76,941,603 | 76,942,511 | ||
| essv99466 | Submitted genomic | NC_000016.8:g.(769 28656_76929222)_(7 6941603_76942511)d up | NCBI35 (hg17) | NC_000016.8 | Chr16 | 76,928,656 | 76,929,222 | 76,941,603 | 76,942,511 | ||
| essv101391 | Submitted genomic | NC_000016.8:g.(769 29222_76929627)_(7 6941603_76942511)d el | NCBI35 (hg17) | NC_000016.8 | Chr16 | 76,929,222 | 76,929,627 | 76,941,603 | 76,942,511 | ||
| essv101574 | Submitted genomic | NC_000016.8:g.(769 29222_76929627)_(7 6941603_76942511)d el | NCBI35 (hg17) | NC_000016.8 | Chr16 | 76,929,222 | 76,929,627 | 76,941,603 | 76,942,511 | ||
| essv94777 | Submitted genomic | NC_000016.8:g.(769 29222_76929627)_(7 6941603_76942511)d el | NCBI35 (hg17) | NC_000016.8 | Chr16 | 76,929,222 | 76,929,627 | 76,941,603 | 76,942,511 | ||
| essv95811 | Submitted genomic | NC_000016.8:g.(769 29222_76929627)_(7 6941603_76942511)d el | NCBI35 (hg17) | NC_000016.8 | Chr16 | 76,929,222 | 76,929,627 | 76,941,603 | 76,942,511 | ||
| essv100078 | Submitted genomic | NC_000016.8:g.(769 29627_76929981)_(7 6941603_76942511)d up | NCBI35 (hg17) | NC_000016.8 | Chr16 | 76,929,627 | 76,929,981 | 76,941,603 | 76,942,511 |