esv33193
- 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:7
- Validation:Not tested
- Clinical Assertions: No
- Region Size:53,841
- 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: 764 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 432 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 762 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 18 SVs from 10 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv33193 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 49,677,568 | 49,731,408 |
| esv33193 | Remapped | Good | GRCh38.p12 | PATCHES | Second Pass | NW_019805495.1 | Chr11|NW_0 19805495.1 | 141,746 | 195,557 |
| esv33193 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 49,699,120 | 49,752,960 |
| esv33193 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000011.8 | Chr11 | 49,655,696 | 49,709,536 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv98823 | copy number loss | 21606 | Oligo aCGH | Probe signal intensity | 282 |
| essv93238 | copy number loss | 22170 | Oligo aCGH | Probe signal intensity | 238 |
| essv95740 | copy number loss | 21841 | Oligo aCGH | Probe signal intensity | 196 |
| essv101520 | copy number loss | 21603 | Oligo aCGH | Probe signal intensity | 188 |
| essv98977 | copy number loss | 21938 | Oligo aCGH | Probe signal intensity | 201 |
| essv92896 | copy number loss | 21939 | Oligo aCGH | Probe signal intensity | 168 |
| essv96857 | copy number loss | 21659 | Oligo aCGH | Probe signal intensity | 128 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv98823 | Remapped | Pass | NW_019805495.1:g.( 132160_132160)_(17 9145_?)del | GRCh38.p12 | Second Pass | NW_019805495.1 | Chr11|NW_0 19805495.1 | 132,160 | 132,160 | 179,145 | - |
| essv93238 | Remapped | Good | NW_019805495.1:g.( 141746_141746)_(19 5557_195557)del | GRCh38.p12 | Second Pass | NW_019805495.1 | Chr11|NW_0 19805495.1 | 141,746 | 141,746 | 195,557 | 195,557 |
| essv95740 | Remapped | Good | NW_019805495.1:g.( 146040_146040)_(19 5557_195557)del | GRCh38.p12 | Second Pass | NW_019805495.1 | Chr11|NW_0 19805495.1 | 146,040 | 146,040 | 195,557 | 195,557 |
| essv101520 | Remapped | Good | NW_019805495.1:g.( 146040_146040)_(20 8004_208004)del | GRCh38.p12 | Second Pass | NW_019805495.1 | Chr11|NW_0 19805495.1 | 146,040 | 146,040 | 208,004 | 208,004 |
| essv98977 | Remapped | Good | NW_019805495.1:g.( 146040_146040)_(20 8004_208004)del | GRCh38.p12 | Second Pass | NW_019805495.1 | Chr11|NW_0 19805495.1 | 146,040 | 146,040 | 208,004 | 208,004 |
| essv92896 | Remapped | Good | NW_019805495.1:g.( 154557_154557)_(19 5557_195557)del | GRCh38.p12 | Second Pass | NW_019805495.1 | Chr11|NW_0 19805495.1 | 154,557 | 154,557 | 195,557 | 195,557 |
| essv96857 | Remapped | Good | NW_019805495.1:g.( 157596_157596)_(19 5557_195557)del | GRCh38.p12 | Second Pass | NW_019805495.1 | Chr11|NW_0 19805495.1 | 157,596 | 157,596 | 195,557 | 195,557 |
| essv98823 | Remapped | Perfect | NC_000011.10:g.(49 667982_49677568)_( 49710739_49719029) del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 49,667,982 | 49,677,568 | 49,710,739 | 49,719,029 |
| essv93238 | Remapped | Perfect | NC_000011.10:g.(49 677568_49679743)_( 49721093_49731408) del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 49,677,568 | 49,679,743 | 49,721,093 | 49,731,408 |
| essv95740 | Remapped | Perfect | NC_000011.10:g.(49 681860_49690421)_( 49721093_49731408) del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 49,681,860 | 49,690,421 | 49,721,093 | 49,731,408 |
| essv101520 | Remapped | Perfect | NC_000011.10:g.(49 681860_49690421)_( 49731408_49743855) del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 49,681,860 | 49,690,421 | 49,731,408 | 49,743,855 |
| essv98977 | Remapped | Perfect | NC_000011.10:g.(49 681860_49690421)_( 49731408_49743855) del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 49,681,860 | 49,690,421 | 49,731,408 | 49,743,855 |
| essv92896 | Remapped | Perfect | NC_000011.10:g.(49 690421_49692026)_( 49721093_49731408) del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 49,690,421 | 49,692,026 | 49,721,093 | 49,731,408 |
| essv96857 | Remapped | Perfect | NC_000011.10:g.(49 693462_49705547)_( 49721093_49731408) del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 49,693,462 | 49,705,547 | 49,721,093 | 49,731,408 |
| essv98823 | Remapped | Perfect | NC_000011.9:g.(496 89534_49699120)_(4 9732291_49740581)d el | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 49,689,534 | 49,699,120 | 49,732,291 | 49,740,581 |
| essv93238 | Remapped | Perfect | NC_000011.9:g.(496 99120_49701295)_(4 9742645_49752960)d el | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 49,699,120 | 49,701,295 | 49,742,645 | 49,752,960 |
| essv95740 | Remapped | Perfect | NC_000011.9:g.(497 03412_49711973)_(4 9742645_49752960)d el | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 49,703,412 | 49,711,973 | 49,742,645 | 49,752,960 |
| essv101520 | Remapped | Perfect | NC_000011.9:g.(497 03412_49711973)_(4 9752960_49765407)d el | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 49,703,412 | 49,711,973 | 49,752,960 | 49,765,407 |
| essv98977 | Remapped | Perfect | NC_000011.9:g.(497 03412_49711973)_(4 9752960_49765407)d el | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 49,703,412 | 49,711,973 | 49,752,960 | 49,765,407 |
| essv92896 | Remapped | Perfect | NC_000011.9:g.(497 11973_49713578)_(4 9742645_49752960)d el | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 49,711,973 | 49,713,578 | 49,742,645 | 49,752,960 |
| essv96857 | Remapped | Perfect | NC_000011.9:g.(497 15014_49727099)_(4 9742645_49752960)d el | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 49,715,014 | 49,727,099 | 49,742,645 | 49,752,960 |
| essv98823 | Submitted genomic | NC_000011.8:g.(496 46110_49655696)_(4 9688867_49697157)d el | NCBI35 (hg17) | NC_000011.8 | Chr11 | 49,646,110 | 49,655,696 | 49,688,867 | 49,697,157 | ||
| essv93238 | Submitted genomic | NC_000011.8:g.(496 55696_49657871)_(4 9699221_49709536)d el | NCBI35 (hg17) | NC_000011.8 | Chr11 | 49,655,696 | 49,657,871 | 49,699,221 | 49,709,536 | ||
| essv95740 | Submitted genomic | NC_000011.8:g.(496 59988_49668549)_(4 9699221_49709536)d el | NCBI35 (hg17) | NC_000011.8 | Chr11 | 49,659,988 | 49,668,549 | 49,699,221 | 49,709,536 | ||
| essv101520 | Submitted genomic | NC_000011.8:g.(496 59988_49668549)_(4 9709536_49721983)d el | NCBI35 (hg17) | NC_000011.8 | Chr11 | 49,659,988 | 49,668,549 | 49,709,536 | 49,721,983 | ||
| essv98977 | Submitted genomic | NC_000011.8:g.(496 59988_49668549)_(4 9709536_49721983)d el | NCBI35 (hg17) | NC_000011.8 | Chr11 | 49,659,988 | 49,668,549 | 49,709,536 | 49,721,983 | ||
| essv92896 | Submitted genomic | NC_000011.8:g.(496 68549_49670154)_(4 9699221_49709536)d el | NCBI35 (hg17) | NC_000011.8 | Chr11 | 49,668,549 | 49,670,154 | 49,699,221 | 49,709,536 | ||
| essv96857 | Submitted genomic | NC_000011.8:g.(496 71590_49683675)_(4 9699221_49709536)d el | NCBI35 (hg17) | NC_000011.8 | Chr11 | 49,671,590 | 49,683,675 | 49,699,221 | 49,709,536 |