esv33831
- 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:18
- Validation:Not tested
- Clinical Assertions: No
- Region Size:499
- 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: 202 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 202 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 4 SVs from 3 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv33831 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 7,035,509 | 7,036,007 |
| esv33831 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000010.10 | Chr10 | 7,077,471 | 7,077,969 |
| esv33831 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000010.8 | Chr10 | 7,117,477 | 7,117,975 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv100213 | copy number loss | 22286 | Oligo aCGH | Probe signal intensity | 177 |
| essv100645 | copy number loss | 21656 | Oligo aCGH | Probe signal intensity | 288 |
| essv101085 | copy number gain | 21693 | Oligo aCGH | Probe signal intensity | 187 |
| essv101264 | copy number loss | 21618 | Oligo aCGH | Probe signal intensity | 173 |
| essv92599 | copy number loss | 22233 | Oligo aCGH | Probe signal intensity | 161 |
| essv93230 | copy number loss | 22170 | Oligo aCGH | Probe signal intensity | 238 |
| essv95394 | copy number loss | 21872 | Oligo aCGH | Probe signal intensity | 177 |
| essv95481 | copy number loss | 21847 | Oligo aCGH | Probe signal intensity | 152 |
| essv96240 | copy number gain | 22007 | Oligo aCGH | Probe signal intensity | 166 |
| essv96940 | copy number loss | 21817 | Oligo aCGH | Probe signal intensity | 201 |
| essv97382 | copy number loss | 21879 | Oligo aCGH | Probe signal intensity | 170 |
| essv97811 | copy number loss | 21837 | Oligo aCGH | Probe signal intensity | 179 |
| essv98321 | copy number loss | 21772 | Oligo aCGH | Probe signal intensity | 211 |
| essv98682 | copy number loss | 21606 | Oligo aCGH | Probe signal intensity | 282 |
| essv99074 | copy number loss | 21938 | Oligo aCGH | Probe signal intensity | 201 |
| essv99157 | copy number loss | 22275 | Oligo aCGH | Probe signal intensity | 224 |
| essv99628 | copy number loss | 22217 | Oligo aCGH | Probe signal intensity | 182 |
| essv99867 | copy number loss | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv100213 | Remapped | Perfect | NC_000010.11:g.(70 34843_7035509)_(70 36007_7038161)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 7,034,843 | 7,035,509 | 7,036,007 | 7,038,161 |
| essv100645 | Remapped | Perfect | NC_000010.11:g.(70 34843_7035509)_(70 36007_7038161)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 7,034,843 | 7,035,509 | 7,036,007 | 7,038,161 |
| essv101085 | Remapped | Perfect | NC_000010.11:g.(70 34843_7035509)_(70 36007_7038161)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 7,034,843 | 7,035,509 | 7,036,007 | 7,038,161 |
| essv101264 | Remapped | Perfect | NC_000010.11:g.(70 34843_7035509)_(70 36007_7038161)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 7,034,843 | 7,035,509 | 7,036,007 | 7,038,161 |
| essv92599 | Remapped | Perfect | NC_000010.11:g.(70 34843_7035509)_(70 36007_7038161)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 7,034,843 | 7,035,509 | 7,036,007 | 7,038,161 |
| essv93230 | Remapped | Perfect | NC_000010.11:g.(70 34843_7035509)_(70 36007_7038161)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 7,034,843 | 7,035,509 | 7,036,007 | 7,038,161 |
| essv95394 | Remapped | Perfect | NC_000010.11:g.(70 34843_7035509)_(70 36007_7038161)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 7,034,843 | 7,035,509 | 7,036,007 | 7,038,161 |
| essv95481 | Remapped | Perfect | NC_000010.11:g.(70 34843_7035509)_(70 36007_7038161)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 7,034,843 | 7,035,509 | 7,036,007 | 7,038,161 |
| essv96240 | Remapped | Perfect | NC_000010.11:g.(70 34843_7035509)_(70 36007_7038161)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 7,034,843 | 7,035,509 | 7,036,007 | 7,038,161 |
| essv96940 | Remapped | Perfect | NC_000010.11:g.(70 34843_7035509)_(70 36007_7038161)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 7,034,843 | 7,035,509 | 7,036,007 | 7,038,161 |
| essv97382 | Remapped | Perfect | NC_000010.11:g.(70 34843_7035509)_(70 36007_7038161)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 7,034,843 | 7,035,509 | 7,036,007 | 7,038,161 |
| essv97811 | Remapped | Perfect | NC_000010.11:g.(70 34843_7035509)_(70 36007_7038161)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 7,034,843 | 7,035,509 | 7,036,007 | 7,038,161 |
| essv98321 | Remapped | Perfect | NC_000010.11:g.(70 34843_7035509)_(70 36007_7038161)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 7,034,843 | 7,035,509 | 7,036,007 | 7,038,161 |
| essv98682 | Remapped | Perfect | NC_000010.11:g.(70 34843_7035509)_(70 36007_7038161)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 7,034,843 | 7,035,509 | 7,036,007 | 7,038,161 |
| essv99074 | Remapped | Perfect | NC_000010.11:g.(70 34843_7035509)_(70 36007_7038161)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 7,034,843 | 7,035,509 | 7,036,007 | 7,038,161 |
| essv99157 | Remapped | Perfect | NC_000010.11:g.(70 34843_7035509)_(70 36007_7038161)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 7,034,843 | 7,035,509 | 7,036,007 | 7,038,161 |
| essv99628 | Remapped | Perfect | NC_000010.11:g.(70 34843_7035509)_(70 36007_7038161)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 7,034,843 | 7,035,509 | 7,036,007 | 7,038,161 |
| essv99867 | Remapped | Perfect | NC_000010.11:g.(70 34843_7035509)_(70 36007_7038161)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 7,034,843 | 7,035,509 | 7,036,007 | 7,038,161 |
| essv100213 | Remapped | Perfect | NC_000010.10:g.(70 76805_7077471)_(70 77969_7080123)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 7,076,805 | 7,077,471 | 7,077,969 | 7,080,123 |
| essv100645 | Remapped | Perfect | NC_000010.10:g.(70 76805_7077471)_(70 77969_7080123)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 7,076,805 | 7,077,471 | 7,077,969 | 7,080,123 |
| essv101085 | Remapped | Perfect | NC_000010.10:g.(70 76805_7077471)_(70 77969_7080123)dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 7,076,805 | 7,077,471 | 7,077,969 | 7,080,123 |
| essv101264 | Remapped | Perfect | NC_000010.10:g.(70 76805_7077471)_(70 77969_7080123)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 7,076,805 | 7,077,471 | 7,077,969 | 7,080,123 |
| essv92599 | Remapped | Perfect | NC_000010.10:g.(70 76805_7077471)_(70 77969_7080123)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 7,076,805 | 7,077,471 | 7,077,969 | 7,080,123 |
| essv93230 | Remapped | Perfect | NC_000010.10:g.(70 76805_7077471)_(70 77969_7080123)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 7,076,805 | 7,077,471 | 7,077,969 | 7,080,123 |
| essv95394 | Remapped | Perfect | NC_000010.10:g.(70 76805_7077471)_(70 77969_7080123)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 7,076,805 | 7,077,471 | 7,077,969 | 7,080,123 |
| essv95481 | Remapped | Perfect | NC_000010.10:g.(70 76805_7077471)_(70 77969_7080123)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 7,076,805 | 7,077,471 | 7,077,969 | 7,080,123 |
| essv96240 | Remapped | Perfect | NC_000010.10:g.(70 76805_7077471)_(70 77969_7080123)dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 7,076,805 | 7,077,471 | 7,077,969 | 7,080,123 |
| essv96940 | Remapped | Perfect | NC_000010.10:g.(70 76805_7077471)_(70 77969_7080123)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 7,076,805 | 7,077,471 | 7,077,969 | 7,080,123 |
| essv97382 | Remapped | Perfect | NC_000010.10:g.(70 76805_7077471)_(70 77969_7080123)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 7,076,805 | 7,077,471 | 7,077,969 | 7,080,123 |
| essv97811 | Remapped | Perfect | NC_000010.10:g.(70 76805_7077471)_(70 77969_7080123)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 7,076,805 | 7,077,471 | 7,077,969 | 7,080,123 |
| essv98321 | Remapped | Perfect | NC_000010.10:g.(70 76805_7077471)_(70 77969_7080123)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 7,076,805 | 7,077,471 | 7,077,969 | 7,080,123 |
| essv98682 | Remapped | Perfect | NC_000010.10:g.(70 76805_7077471)_(70 77969_7080123)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 7,076,805 | 7,077,471 | 7,077,969 | 7,080,123 |
| essv99074 | Remapped | Perfect | NC_000010.10:g.(70 76805_7077471)_(70 77969_7080123)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 7,076,805 | 7,077,471 | 7,077,969 | 7,080,123 |
| essv99157 | Remapped | Perfect | NC_000010.10:g.(70 76805_7077471)_(70 77969_7080123)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 7,076,805 | 7,077,471 | 7,077,969 | 7,080,123 |
| essv99628 | Remapped | Perfect | NC_000010.10:g.(70 76805_7077471)_(70 77969_7080123)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 7,076,805 | 7,077,471 | 7,077,969 | 7,080,123 |
| essv99867 | Remapped | Perfect | NC_000010.10:g.(70 76805_7077471)_(70 77969_7080123)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 7,076,805 | 7,077,471 | 7,077,969 | 7,080,123 |
| essv100213 | Submitted genomic | NC_000010.8:g.(711 6811_7117477)_(711 7975_7120129)del | NCBI35 (hg17) | NC_000010.8 | Chr10 | 7,116,811 | 7,117,477 | 7,117,975 | 7,120,129 | ||
| essv100645 | Submitted genomic | NC_000010.8:g.(711 6811_7117477)_(711 7975_7120129)del | NCBI35 (hg17) | NC_000010.8 | Chr10 | 7,116,811 | 7,117,477 | 7,117,975 | 7,120,129 | ||
| essv101085 | Submitted genomic | NC_000010.8:g.(711 6811_7117477)_(711 7975_7120129)dup | NCBI35 (hg17) | NC_000010.8 | Chr10 | 7,116,811 | 7,117,477 | 7,117,975 | 7,120,129 | ||
| essv101264 | Submitted genomic | NC_000010.8:g.(711 6811_7117477)_(711 7975_7120129)del | NCBI35 (hg17) | NC_000010.8 | Chr10 | 7,116,811 | 7,117,477 | 7,117,975 | 7,120,129 | ||
| essv92599 | Submitted genomic | NC_000010.8:g.(711 6811_7117477)_(711 7975_7120129)del | NCBI35 (hg17) | NC_000010.8 | Chr10 | 7,116,811 | 7,117,477 | 7,117,975 | 7,120,129 | ||
| essv93230 | Submitted genomic | NC_000010.8:g.(711 6811_7117477)_(711 7975_7120129)del | NCBI35 (hg17) | NC_000010.8 | Chr10 | 7,116,811 | 7,117,477 | 7,117,975 | 7,120,129 | ||
| essv95394 | Submitted genomic | NC_000010.8:g.(711 6811_7117477)_(711 7975_7120129)del | NCBI35 (hg17) | NC_000010.8 | Chr10 | 7,116,811 | 7,117,477 | 7,117,975 | 7,120,129 | ||
| essv95481 | Submitted genomic | NC_000010.8:g.(711 6811_7117477)_(711 7975_7120129)del | NCBI35 (hg17) | NC_000010.8 | Chr10 | 7,116,811 | 7,117,477 | 7,117,975 | 7,120,129 | ||
| essv96240 | Submitted genomic | NC_000010.8:g.(711 6811_7117477)_(711 7975_7120129)dup | NCBI35 (hg17) | NC_000010.8 | Chr10 | 7,116,811 | 7,117,477 | 7,117,975 | 7,120,129 | ||
| essv96940 | Submitted genomic | NC_000010.8:g.(711 6811_7117477)_(711 7975_7120129)del | NCBI35 (hg17) | NC_000010.8 | Chr10 | 7,116,811 | 7,117,477 | 7,117,975 | 7,120,129 | ||
| essv97382 | Submitted genomic | NC_000010.8:g.(711 6811_7117477)_(711 7975_7120129)del | NCBI35 (hg17) | NC_000010.8 | Chr10 | 7,116,811 | 7,117,477 | 7,117,975 | 7,120,129 | ||
| essv97811 | Submitted genomic | NC_000010.8:g.(711 6811_7117477)_(711 7975_7120129)del | NCBI35 (hg17) | NC_000010.8 | Chr10 | 7,116,811 | 7,117,477 | 7,117,975 | 7,120,129 | ||
| essv98321 | Submitted genomic | NC_000010.8:g.(711 6811_7117477)_(711 7975_7120129)del | NCBI35 (hg17) | NC_000010.8 | Chr10 | 7,116,811 | 7,117,477 | 7,117,975 | 7,120,129 | ||
| essv98682 | Submitted genomic | NC_000010.8:g.(711 6811_7117477)_(711 7975_7120129)del | NCBI35 (hg17) | NC_000010.8 | Chr10 | 7,116,811 | 7,117,477 | 7,117,975 | 7,120,129 | ||
| essv99074 | Submitted genomic | NC_000010.8:g.(711 6811_7117477)_(711 7975_7120129)del | NCBI35 (hg17) | NC_000010.8 | Chr10 | 7,116,811 | 7,117,477 | 7,117,975 | 7,120,129 | ||
| essv99157 | Submitted genomic | NC_000010.8:g.(711 6811_7117477)_(711 7975_7120129)del | NCBI35 (hg17) | NC_000010.8 | Chr10 | 7,116,811 | 7,117,477 | 7,117,975 | 7,120,129 | ||
| essv99628 | Submitted genomic | NC_000010.8:g.(711 6811_7117477)_(711 7975_7120129)del | NCBI35 (hg17) | NC_000010.8 | Chr10 | 7,116,811 | 7,117,477 | 7,117,975 | 7,120,129 | ||
| essv99867 | Submitted genomic | NC_000010.8:g.(711 6811_7117477)_(711 7975_7120129)del | NCBI35 (hg17) | NC_000010.8 | Chr10 | 7,116,811 | 7,117,477 | 7,117,975 | 7,120,129 |