esv2763926
- Organism: Homo sapiens
- Study:estd203 (Vogler et al. 2010)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:7
- Validation:Not tested
- Clinical Assertions: No
- Region Size:11,444
- Publication(s):Vogler et al. 2010
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: 337 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 136 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 141 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 337 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 130 SVs from 21 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2763926 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 177,963,074 | 177,974,508 |
| esv2763926 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187546.1 | Chr5|NT_18 7546.1 | 100,684 | 112,127 |
| esv2763926 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187652.1 | Chr5|NT_18 7652.1 | 97,610 | 109,050 |
| esv2763926 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 177,390,075 | 177,401,509 |
| esv2763926 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 177,322,681 | 177,334,115 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7031702 | copy number loss | SW_1087 | SNP array | SNP genotyping analysis | 27 |
| essv7031703 | copy number loss | SW_0076 | SNP array | SNP genotyping analysis | 46 |
| essv7031704 | copy number loss | SW_0175 | SNP array | SNP genotyping analysis | 30 |
| essv7031705 | copy number loss | SW_0638 | SNP array | SNP genotyping analysis | 42 |
| essv7031706 | copy number loss | SW_1042 | SNP array | SNP genotyping analysis | 33 |
| essv7031707 | copy number loss | SW_1097 | SNP array | SNP genotyping analysis | 47 |
| essv7031708 | copy number loss | SW_1287 | SNP array | SNP genotyping analysis | 27 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7031702 | Remapped | Good | NT_187652.1:g.(?_9 7610)_(107817_?)de l | GRCh38.p12 | Second Pass | NT_187652.1 | Chr5|NT_18 7652.1 | 97,610 | 107,817 |
| essv7031703 | Remapped | Good | NT_187652.1:g.(?_9 7610)_(108404_?)de l | GRCh38.p12 | Second Pass | NT_187652.1 | Chr5|NT_18 7652.1 | 97,610 | 108,404 |
| essv7031704 | Remapped | Good | NT_187652.1:g.(?_9 7610)_(108404_?)de l | GRCh38.p12 | Second Pass | NT_187652.1 | Chr5|NT_18 7652.1 | 97,610 | 108,404 |
| essv7031705 | Remapped | Good | NT_187652.1:g.(?_9 7610)_(109050_?)de l | GRCh38.p12 | Second Pass | NT_187652.1 | Chr5|NT_18 7652.1 | 97,610 | 109,050 |
| essv7031706 | Remapped | Good | NT_187652.1:g.(?_9 7610)_(109050_?)de l | GRCh38.p12 | Second Pass | NT_187652.1 | Chr5|NT_18 7652.1 | 97,610 | 109,050 |
| essv7031707 | Remapped | Good | NT_187652.1:g.(?_9 7610)_(109050_?)de l | GRCh38.p12 | Second Pass | NT_187652.1 | Chr5|NT_18 7652.1 | 97,610 | 109,050 |
| essv7031708 | Remapped | Good | NT_187652.1:g.(?_9 7610)_(109050_?)de l | GRCh38.p12 | Second Pass | NT_187652.1 | Chr5|NT_18 7652.1 | 97,610 | 109,050 |
| essv7031702 | Remapped | Good | NT_187546.1:g.(?_1 00684)_(110896_?)d el | GRCh38.p12 | Second Pass | NT_187546.1 | Chr5|NT_18 7546.1 | 100,684 | 110,896 |
| essv7031703 | Remapped | Good | NT_187546.1:g.(?_1 00684)_(111481_?)d el | GRCh38.p12 | Second Pass | NT_187546.1 | Chr5|NT_18 7546.1 | 100,684 | 111,481 |
| essv7031704 | Remapped | Good | NT_187546.1:g.(?_1 00684)_(111481_?)d el | GRCh38.p12 | Second Pass | NT_187546.1 | Chr5|NT_18 7546.1 | 100,684 | 111,481 |
| essv7031705 | Remapped | Good | NT_187546.1:g.(?_1 00684)_(112127_?)d el | GRCh38.p12 | Second Pass | NT_187546.1 | Chr5|NT_18 7546.1 | 100,684 | 112,127 |
| essv7031706 | Remapped | Good | NT_187546.1:g.(?_1 00684)_(112127_?)d el | GRCh38.p12 | Second Pass | NT_187546.1 | Chr5|NT_18 7546.1 | 100,684 | 112,127 |
| essv7031707 | Remapped | Good | NT_187546.1:g.(?_1 00684)_(112127_?)d el | GRCh38.p12 | Second Pass | NT_187546.1 | Chr5|NT_18 7546.1 | 100,684 | 112,127 |
| essv7031708 | Remapped | Good | NT_187546.1:g.(?_1 00684)_(112127_?)d el | GRCh38.p12 | Second Pass | NT_187546.1 | Chr5|NT_18 7546.1 | 100,684 | 112,127 |
| essv7031702 | Remapped | Perfect | NC_000005.10:g.(?_ 177963074)_(177973 282_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 177,963,074 | 177,973,282 |
| essv7031703 | Remapped | Perfect | NC_000005.10:g.(?_ 177963074)_(177973 867_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 177,963,074 | 177,973,867 |
| essv7031704 | Remapped | Perfect | NC_000005.10:g.(?_ 177963074)_(177973 867_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 177,963,074 | 177,973,867 |
| essv7031705 | Remapped | Perfect | NC_000005.10:g.(?_ 177963074)_(177974 508_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 177,963,074 | 177,974,508 |
| essv7031706 | Remapped | Perfect | NC_000005.10:g.(?_ 177963074)_(177974 508_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 177,963,074 | 177,974,508 |
| essv7031707 | Remapped | Perfect | NC_000005.10:g.(?_ 177963074)_(177974 508_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 177,963,074 | 177,974,508 |
| essv7031708 | Remapped | Perfect | NC_000005.10:g.(?_ 177963074)_(177974 508_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 177,963,074 | 177,974,508 |
| essv7031702 | Remapped | Perfect | NC_000005.9:g.(?_1 77390075)_(1774002 83_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 177,390,075 | 177,400,283 |
| essv7031703 | Remapped | Perfect | NC_000005.9:g.(?_1 77390075)_(1774008 68_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 177,390,075 | 177,400,868 |
| essv7031704 | Remapped | Perfect | NC_000005.9:g.(?_1 77390075)_(1774008 68_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 177,390,075 | 177,400,868 |
| essv7031705 | Remapped | Perfect | NC_000005.9:g.(?_1 77390075)_(1774015 09_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 177,390,075 | 177,401,509 |
| essv7031706 | Remapped | Perfect | NC_000005.9:g.(?_1 77390075)_(1774015 09_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 177,390,075 | 177,401,509 |
| essv7031707 | Remapped | Perfect | NC_000005.9:g.(?_1 77390075)_(1774015 09_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 177,390,075 | 177,401,509 |
| essv7031708 | Remapped | Perfect | NC_000005.9:g.(?_1 77390075)_(1774015 09_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 177,390,075 | 177,401,509 |
| essv7031702 | Submitted genomic | NC_000005.8:g.(?_1 77322681)_(1773328 89_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 177,322,681 | 177,332,889 | ||
| essv7031703 | Submitted genomic | NC_000005.8:g.(?_1 77322681)_(1773334 74_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 177,322,681 | 177,333,474 | ||
| essv7031704 | Submitted genomic | NC_000005.8:g.(?_1 77322681)_(1773334 74_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 177,322,681 | 177,333,474 | ||
| essv7031705 | Submitted genomic | NC_000005.8:g.(?_1 77322681)_(1773341 15_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 177,322,681 | 177,334,115 | ||
| essv7031706 | Submitted genomic | NC_000005.8:g.(?_1 77322681)_(1773341 15_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 177,322,681 | 177,334,115 | ||
| essv7031707 | Submitted genomic | NC_000005.8:g.(?_1 77322681)_(1773341 15_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 177,322,681 | 177,334,115 | ||
| essv7031708 | Submitted genomic | NC_000005.8:g.(?_1 77322681)_(1773341 15_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 177,322,681 | 177,334,115 |