esv1579884
- Organism: Homo sapiens
- Study:estd22 (Levy et al. 2007)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:3
- Publication(s):Levy 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: 6 SVs from 4 studies. See in: genome view
Overlapping variant regions from other studies: 35 SVs from 17 studies. See in: genome view
Overlapping variant regions from other studies: 39 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 40 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 27 SVs from 16 studies. See in: genome view
Overlapping variant regions from other studies: 25 SVs from 16 studies. See in: genome view
Overlapping variant regions from other studies: 25 SVs from 16 studies. See in: genome view
Overlapping variant regions from other studies: 25 SVs from 16 studies. See in: genome view
Overlapping variant regions from other studies: 35 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 40 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 108 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 58 SVs from 12 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv1579884 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_29 | Second Pass | NT_187677.1 | Chr19|NT_1 87677.1 | 184,845 | 184,847 |
| esv1579884 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_26 | Second Pass | NT_187674.1 | Chr19|NT_1 87674.1 | 193,498 | 193,500 |
| esv1579884 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_27 | Second Pass | NT_187675.1 | Chr19|NT_1 87675.1 | 277,717 | 277,719 |
| esv1579884 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_9 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 889,952 | 889,954 |
| esv1579884 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_8 | Second Pass | NW_003571061.2 | Chr19|NW_0 03571061.2 | 619,631 | 619,633 |
| esv1579884 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_7 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 811,837 | 811,839 |
| esv1579884 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_6 | Second Pass | NW_003571059.2 | Chr19|NW_0 03571059.2 | 825,835 | 825,837 |
| esv1579884 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_5 | Second Pass | NW_003571058.2 | Chr19|NW_0 03571058.2 | 889,542 | 889,544 |
| esv1579884 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_4 | Second Pass | NW_003571057.2 | Chr19|NW_0 03571057.2 | 914,993 | 914,995 |
| esv1579884 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_3 | Second Pass | NW_003571056.2 | Chr19|NW_0 03571056.2 | 887,456 | 887,458 |
| esv1579884 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NW_003571055.2 | Chr19|NW_0 03571055.2 | 552,661 | 552,663 |
| esv1579884 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 810,868 | 810,870 |
| esv1579884 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000019.9 | Chr19 | 55,418,838 | 55,418,840 |
| esv1579884 | Remapped | Perfect | GRCh37.p13 | PATCHES | Second Pass | NW_003571055.1 | Chr19|NW_0 03571055.1 | 552,660 | 552,662 |
| esv1579884 | Remapped | Perfect | GRCh37.p13 | PATCHES | Second Pass | NW_003571061.1 | Chr19|NW_0 03571061.1 | 619,630 | 619,632 |
| esv1579884 | Remapped | Perfect | GRCh37.p13 | PATCHES | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 810,868 | 810,870 |
| esv1579884 | Remapped | Perfect | GRCh37.p13 | PATCHES | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 811,837 | 811,839 |
| esv1579884 | Remapped | Perfect | GRCh37.p13 | PATCHES | Second Pass | NW_003571059.1 | Chr19|NW_0 03571059.1 | 825,834 | 825,836 |
| esv1579884 | Remapped | Perfect | GRCh37.p13 | PATCHES | Second Pass | NW_003571056.1 | Chr19|NW_0 03571056.1 | 887,455 | 887,457 |
| esv1579884 | Remapped | Perfect | GRCh37.p13 | PATCHES | Second Pass | NW_003571058.1 | Chr19|NW_0 03571058.1 | 889,541 | 889,543 |
| esv1579884 | Remapped | Perfect | GRCh37.p13 | PATCHES | Second Pass | NW_003571057.1 | Chr19|NW_0 03571057.1 | 914,992 | 914,994 |
| esv1579884 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000019.8 | Chr19 | 60,110,650 | 60,110,652 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv3921025 | Remapped | Perfect | NT_187677.1:g.1848 45_184847del | GRCh38.p12 | Second Pass | NT_187677.1 | Chr19|NT_1 87677.1 | 184,845 | 184,847 |
| essv3921025 | Remapped | Perfect | NT_187674.1:g.1934 98_193500del | GRCh38.p12 | Second Pass | NT_187674.1 | Chr19|NT_1 87674.1 | 193,498 | 193,500 |
| essv3921025 | Remapped | Perfect | NT_187675.1:g.2777 17_277719del | GRCh38.p12 | Second Pass | NT_187675.1 | Chr19|NT_1 87675.1 | 277,717 | 277,719 |
| essv3921025 | Remapped | Perfect | NT_187693.1:g.8899 52_889954del | GRCh38.p12 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 889,952 | 889,954 |
| essv3921025 | Remapped | Perfect | NW_003571061.2:g.6 19631_619633del | GRCh38.p12 | Second Pass | NW_003571061.2 | Chr19|NW_0 03571061.2 | 619,631 | 619,633 |
| essv3921025 | Remapped | Perfect | NW_003571060.1:g.8 11837_811839del | GRCh38.p12 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 811,837 | 811,839 |
| essv3921025 | Remapped | Perfect | NW_003571059.2:g.8 25835_825837del | GRCh38.p12 | Second Pass | NW_003571059.2 | Chr19|NW_0 03571059.2 | 825,835 | 825,837 |
| essv3921025 | Remapped | Perfect | NW_003571058.2:g.8 89542_889544del | GRCh38.p12 | Second Pass | NW_003571058.2 | Chr19|NW_0 03571058.2 | 889,542 | 889,544 |
| essv3921025 | Remapped | Perfect | NW_003571057.2:g.9 14993_914995del | GRCh38.p12 | Second Pass | NW_003571057.2 | Chr19|NW_0 03571057.2 | 914,993 | 914,995 |
| essv3921025 | Remapped | Perfect | NW_003571056.2:g.8 87456_887458del | GRCh38.p12 | Second Pass | NW_003571056.2 | Chr19|NW_0 03571056.2 | 887,456 | 887,458 |
| essv3921025 | Remapped | Perfect | NW_003571055.2:g.5 52661_552663del | GRCh38.p12 | Second Pass | NW_003571055.2 | Chr19|NW_0 03571055.2 | 552,661 | 552,663 |
| essv3921025 | Remapped | Perfect | NW_003571054.1:g.8 10868_810870del | GRCh38.p12 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 810,868 | 810,870 |
| essv3921025 | Remapped | Perfect | NW_003571061.1:g.6 19630_619632delNW_ 003571060.1:g.8118 37_811839delNW_003 571057.1:g.914992_ 914994delNW_003571 054.1:g.810868_810 870delNW_003571056 .1:g.887455_887457 delNW_003571058.1: g.889541_889543del NW_003571055.1:g.5 52660_552662delNW_ 003571059.1:g.8258 34_825836del | GRCh37.p13 | Second Pass | NW_003571055.1 | Chr19|NW_0 03571055.1 | 552,660 | 552,662 |
| essv3921025 | Remapped | Perfect | NW_003571061.1:g.6 19630_619632delNW_ 003571060.1:g.8118 37_811839delNW_003 571057.1:g.914992_ 914994delNW_003571 054.1:g.810868_810 870delNW_003571056 .1:g.887455_887457 delNW_003571058.1: g.889541_889543del NW_003571055.1:g.5 52660_552662delNW_ 003571059.1:g.8258 34_825836del | GRCh37.p13 | Second Pass | NW_003571061.1 | Chr19|NW_0 03571061.1 | 619,630 | 619,632 |
| essv3921025 | Remapped | Perfect | NW_003571061.1:g.6 19630_619632delNW_ 003571060.1:g.8118 37_811839delNW_003 571057.1:g.914992_ 914994delNW_003571 054.1:g.810868_810 870delNW_003571056 .1:g.887455_887457 delNW_003571058.1: g.889541_889543del NW_003571055.1:g.5 52660_552662delNW_ 003571059.1:g.8258 34_825836del | GRCh37.p13 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 810,868 | 810,870 |
| essv3921025 | Remapped | Perfect | NW_003571061.1:g.6 19630_619632delNW_ 003571060.1:g.8118 37_811839delNW_003 571057.1:g.914992_ 914994delNW_003571 054.1:g.810868_810 870delNW_003571056 .1:g.887455_887457 delNW_003571058.1: g.889541_889543del NW_003571055.1:g.5 52660_552662delNW_ 003571059.1:g.8258 34_825836del | GRCh37.p13 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 811,837 | 811,839 |
| essv3921025 | Remapped | Perfect | NW_003571061.1:g.6 19630_619632delNW_ 003571060.1:g.8118 37_811839delNW_003 571057.1:g.914992_ 914994delNW_003571 054.1:g.810868_810 870delNW_003571056 .1:g.887455_887457 delNW_003571058.1: g.889541_889543del NW_003571055.1:g.5 52660_552662delNW_ 003571059.1:g.8258 34_825836del | GRCh37.p13 | Second Pass | NW_003571059.1 | Chr19|NW_0 03571059.1 | 825,834 | 825,836 |
| essv3921025 | Remapped | Perfect | NW_003571061.1:g.6 19630_619632delNW_ 003571060.1:g.8118 37_811839delNW_003 571057.1:g.914992_ 914994delNW_003571 054.1:g.810868_810 870delNW_003571056 .1:g.887455_887457 delNW_003571058.1: g.889541_889543del NW_003571055.1:g.5 52660_552662delNW_ 003571059.1:g.8258 34_825836del | GRCh37.p13 | Second Pass | NW_003571056.1 | Chr19|NW_0 03571056.1 | 887,455 | 887,457 |
| essv3921025 | Remapped | Perfect | NW_003571061.1:g.6 19630_619632delNW_ 003571060.1:g.8118 37_811839delNW_003 571057.1:g.914992_ 914994delNW_003571 054.1:g.810868_810 870delNW_003571056 .1:g.887455_887457 delNW_003571058.1: g.889541_889543del NW_003571055.1:g.5 52660_552662delNW_ 003571059.1:g.8258 34_825836del | GRCh37.p13 | Second Pass | NW_003571058.1 | Chr19|NW_0 03571058.1 | 889,541 | 889,543 |
| essv3921025 | Remapped | Perfect | NW_003571061.1:g.6 19630_619632delNW_ 003571060.1:g.8118 37_811839delNW_003 571057.1:g.914992_ 914994delNW_003571 054.1:g.810868_810 870delNW_003571056 .1:g.887455_887457 delNW_003571058.1: g.889541_889543del NW_003571055.1:g.5 52660_552662delNW_ 003571059.1:g.8258 34_825836del | GRCh37.p13 | Second Pass | NW_003571057.1 | Chr19|NW_0 03571057.1 | 914,992 | 914,994 |
| essv3921025 | Remapped | Perfect | NC_000019.9:g.5541 8838_55418840del | GRCh37.p13 | Second Pass | NC_000019.9 | Chr19 | 55,418,838 | 55,418,840 |
| essv3921025 | Submitted genomic | NC_000019.8:g.6011 0650_60110652del | NCBI36 (hg18) | NC_000019.8 | Chr19 | 60,110,650 | 60,110,652 |