esv2759412
- Organism: Homo sapiens
- Study:estd1 (Redon et al. 2006)
- Variant Type:copy number variation
- Method Type:BAC aCGH, SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:264,296
- Publication(s):Redon et al. 2006
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: 3772 SVs from 114 studies. See in: genome view
Overlapping variant regions from other studies: 474 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 160 SVs from 13 studies. See in: genome view
Overlapping variant regions from other studies: 196 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 1528 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 212 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 158 SVs from 12 studies. See in: genome view
Overlapping variant regions from other studies: 147 SVs from 12 studies. See in: genome view
Overlapping variant regions from other studies: 3772 SVs from 114 studies. See in: genome view
Overlapping variant regions from other studies: 158 SVs from 12 studies. See in: genome view
Overlapping variant regions from other studies: 264 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 474 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 160 SVs from 13 studies. See in: genome view
Overlapping variant regions from other studies: 196 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 137 SVs from 12 studies. See in: genome view
Overlapping variant regions from other studies: 1528 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 143 SVs from 12 studies. See in: genome view
Overlapping variant regions from other studies: 149 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2759412 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 29,824,657 | 30,007,367 |
| esv2759412 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_5 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | 1,087,128 | 1,351,423 |
| esv2759412 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_6 | Second Pass | NT_167248.2 | Chr6|NT_16 7248.2 | 1,087,423 | 1,262,465 |
| esv2759412 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_7 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 1,130,689 | 1,305,174 |
| esv2759412 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_4 | Second Pass | NT_167246.2 | Chr6|NT_16 7246.2 | 1,087,144 | 1,268,098 |
| esv2759412 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_3 | Second Pass | NT_167245.2 | Chr6|NT_16 7245.2 | 1,087,470 | 1,262,902 |
| esv2759412 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_113891.3 | Chr6|NT_11 3891.3 | 1,308,219 | 1,486,752 |
| esv2759412 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_167244.2 | Chr6|NT_16 7244.2 | 1,090,269 | 1,265,076 |
| esv2759412 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 29,792,434 | 29,975,144 |
| esv2759412 | Remapped | Good | GRCh37.p13 | ALT_REF_LOCI_2 | Second Pass | NT_113891.2 | Chr6|NT_11 3891.2 | 1,308,325 | 1,486,858 |
| esv2759412 | Remapped | Good | GRCh37.p13 | ALT_REF_LOCI_3 | Second Pass | NT_167245.1 | Chr6|NT_16 7245.1 | 1,093,055 | 1,268,487 |
| esv2759412 | Remapped | Pass | GRCh37.p13 | ALT_REF_LOCI_5 | Second Pass | NT_167247.1 | Chr6|NT_16 7247.1 | 1,092,713 | 1,357,008 |
| esv2759412 | Remapped | Good | GRCh37.p13 | ALT_REF_LOCI_6 | Second Pass | NT_167248.1 | Chr6|NT_16 7248.1 | 1,093,019 | 1,268,061 |
| esv2759412 | Remapped | Good | GRCh37.p13 | ALT_REF_LOCI_7 | Second Pass | NT_167249.1 | Chr6|NT_16 7249.1 | 1,129,987 | 1,304,472 |
| esv2759412 | Remapped | Pass | GRCh37.p13 | ALT_REF_LOCI_1 | Second Pass | NT_167244.1 | Chr6|NT_16 7244.1 | 1,085,625 | 1,214,992 |
| esv2759412 | Remapped | Good | GRCh37.p13 | ALT_REF_LOCI_4 | Second Pass | NT_167246.1 | Chr6|NT_16 7246.1 | 1,092,764 | 1,273,718 |
| esv2759412 | Remapped | Pass | GRCh37.p13 | PATCHES | Second Pass | NW_003871063.1 | Chr6|NW_00 3871063.1 | 66,446 | 200,195 |
| esv2759412 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000006.9 | Chr6 | 29,900,413 | 30,083,123 |
Variant Call Information
| Variant Call ID | Type | Method |
|---|---|---|
| esv2758040 | copy number variation | Merged region |
| esv2757159 | copy number variation | Merged region |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|
| esv2758040 | Remapped | Pass | GRCh38.p12 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | 1,087,128 | 1,351,423 |
| esv2758040 | Remapped | Good | GRCh38.p12 | Second Pass | NT_167246.2 | Chr6|NT_16 7246.2 | 1,087,144 | 1,268,098 |
| esv2758040 | Remapped | Good | GRCh38.p12 | Second Pass | NT_167248.2 | Chr6|NT_16 7248.2 | 1,087,423 | 1,262,465 |
| esv2757159 | Remapped | Good | GRCh38.p12 | Second Pass | NT_167246.2 | Chr6|NT_16 7246.2 | 1,128,810 | 1,258,450 |
| esv2757159 | Remapped | Pass | GRCh38.p12 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | 1,129,123 | 1,341,780 |
| esv2757159 | Remapped | Pass | GRCh38.p12 | Second Pass | NT_167248.2 | Chr6|NT_16 7248.2 | 1,129,233 | 1,252,724 |
| esv2758040 | Remapped | Good | GRCh38.p12 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 1,130,689 | 1,305,174 |
| esv2757159 | Remapped | Pass | GRCh38.p12 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 1,172,198 | 1,295,530 |
| esv2758040 | Remapped | Good | GRCh38.p12 | Second Pass | NT_167245.2 | Chr6|NT_16 7245.2 | 1,087,470 | 1,262,902 |
| esv2757159 | Remapped | Pass | GRCh38.p12 | Second Pass | NT_167245.2 | Chr6|NT_16 7245.2 | 1,129,483 | 1,253,262 |
| esv2758040 | Remapped | Good | GRCh38.p12 | Second Pass | NT_167244.2 | Chr6|NT_16 7244.2 | 1,090,269 | 1,265,076 |
| esv2757159 | Remapped | Pass | GRCh38.p12 | Second Pass | NT_167244.2 | Chr6|NT_16 7244.2 | 1,132,075 | 1,255,436 |
| esv2758040 | Remapped | Good | GRCh38.p12 | Second Pass | NT_113891.3 | Chr6|NT_11 3891.3 | 1,308,219 | 1,486,752 |
| esv2757159 | Remapped | Pass | GRCh38.p12 | Second Pass | NT_113891.3 | Chr6|NT_11 3891.3 | 1,353,743 | 1,477,112 |
| esv2758040 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 29,824,657 | 30,007,367 |
| esv2757159 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 29,866,695 | 29,997,724 |
| esv2758040 | Remapped | Pass | GRCh37.p13 | Second Pass | NW_003871063.1 | Chr6|NW_00 3871063.1 | 66,446 | 200,195 |
| esv2757159 | Remapped | Pass | GRCh37.p13 | Second Pass | NW_003871063.1 | Chr6|NW_00 3871063.1 | 108,252 | 200,195 |
| esv2757159 | Remapped | Pass | GRCh37.p13 | Second Pass | NT_167244.1 | Chr6|NT_16 7244.1 | 1,085,625 | 1,205,352 |
| esv2758040 | Remapped | Pass | GRCh37.p13 | Second Pass | NT_167244.1 | Chr6|NT_16 7244.1 | 1,085,625 | 1,214,992 |
| esv2758040 | Remapped | Pass | GRCh37.p13 | Second Pass | NT_167247.1 | Chr6|NT_16 7247.1 | 1,092,713 | 1,357,008 |
| esv2758040 | Remapped | Good | GRCh37.p13 | Second Pass | NT_167246.1 | Chr6|NT_16 7246.1 | 1,092,764 | 1,273,718 |
| esv2758040 | Remapped | Good | GRCh37.p13 | Second Pass | NT_167248.1 | Chr6|NT_16 7248.1 | 1,093,019 | 1,268,061 |
| esv2758040 | Remapped | Good | GRCh37.p13 | Second Pass | NT_167245.1 | Chr6|NT_16 7245.1 | 1,093,055 | 1,268,487 |
| esv2758040 | Remapped | Good | GRCh37.p13 | Second Pass | NT_167249.1 | Chr6|NT_16 7249.1 | 1,129,987 | 1,304,472 |
| esv2757159 | Remapped | Good | GRCh37.p13 | Second Pass | NT_167246.1 | Chr6|NT_16 7246.1 | 1,134,430 | 1,264,070 |
| esv2757159 | Remapped | Pass | GRCh37.p13 | Second Pass | NT_167247.1 | Chr6|NT_16 7247.1 | 1,134,708 | 1,347,365 |
| esv2757159 | Remapped | Pass | GRCh37.p13 | Second Pass | NT_167248.1 | Chr6|NT_16 7248.1 | 1,134,829 | 1,258,320 |
| esv2757159 | Remapped | Pass | GRCh37.p13 | Second Pass | NT_167245.1 | Chr6|NT_16 7245.1 | 1,135,068 | 1,258,847 |
| esv2757159 | Remapped | Pass | GRCh37.p13 | Second Pass | NT_167249.1 | Chr6|NT_16 7249.1 | 1,171,496 | 1,294,828 |
| esv2758040 | Remapped | Good | GRCh37.p13 | Second Pass | NT_113891.2 | Chr6|NT_11 3891.2 | 1,308,325 | 1,486,858 |
| esv2757159 | Remapped | Pass | GRCh37.p13 | Second Pass | NT_113891.2 | Chr6|NT_11 3891.2 | 1,353,849 | 1,477,218 |
| esv2758040 | Remapped | Perfect | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 29,792,434 | 29,975,144 |
| esv2757159 | Remapped | Perfect | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 29,834,472 | 29,965,501 |
| esv2758040 | Submitted genomic | NCBI35 (hg17) | NC_000006.9 | Chr6 | 29,900,413 | 30,083,123 | ||
| esv2757159 | Submitted genomic | NCBI35 (hg17) | NC_000006.9 | Chr6 | 29,942,451 | 30,073,480 |