esv33810
- 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:5
- Validation:Not tested
- Clinical Assertions: No
- Region Size:14,295
- 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: 201 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 201 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 4 SVs from 1 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 |
---|---|---|---|---|---|---|---|---|---|
esv33810 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 50,606,994 | 50,621,288 |
esv33810 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000019.9 | Chr19 | 51,110,251 | 51,124,545 |
esv33810 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000019.8 | Chr19 | 55,802,063 | 55,816,357 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
essv95023 | copy number gain | 22231 | Oligo aCGH | Probe signal intensity | 206 |
essv94421 | copy number loss | 21808 | Oligo aCGH | Probe signal intensity | 172 |
essv95531 | copy number loss | 21847 | Oligo aCGH | Probe signal intensity | 152 |
essv95788 | copy number loss | 21911 | Oligo aCGH | Probe signal intensity | 167 |
essv97114 | copy number loss | 22075 | Oligo aCGH | Probe signal intensity | 208 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
essv95023 | Remapped | Perfect | NC_000019.10:g.(50 602974_50606994)_( 50608409_50621288) dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 50,602,974 | 50,606,994 | 50,608,409 | 50,621,288 |
essv94421 | Remapped | Perfect | NC_000019.10:g.(50 602974_50606994)_( 50621288_50624513) del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 50,602,974 | 50,606,994 | 50,621,288 | 50,624,513 |
essv95531 | Remapped | Perfect | NC_000019.10:g.(50 602974_50606994)_( 50621288_50624513) del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 50,602,974 | 50,606,994 | 50,621,288 | 50,624,513 |
essv95788 | Remapped | Perfect | NC_000019.10:g.(50 602974_50606994)_( 50621288_50624513) del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 50,602,974 | 50,606,994 | 50,621,288 | 50,624,513 |
essv97114 | Remapped | Perfect | NC_000019.10:g.(50 607603_50607835)_( 50608409_50621288) del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 50,607,603 | 50,607,835 | 50,608,409 | 50,621,288 |
essv95023 | Remapped | Perfect | NC_000019.9:g.(511 06231_51110251)_(5 1111666_51124545)d up | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 51,106,231 | 51,110,251 | 51,111,666 | 51,124,545 |
essv94421 | Remapped | Perfect | NC_000019.9:g.(511 06231_51110251)_(5 1124545_51127770)d el | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 51,106,231 | 51,110,251 | 51,124,545 | 51,127,770 |
essv95531 | Remapped | Perfect | NC_000019.9:g.(511 06231_51110251)_(5 1124545_51127770)d el | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 51,106,231 | 51,110,251 | 51,124,545 | 51,127,770 |
essv95788 | Remapped | Perfect | NC_000019.9:g.(511 06231_51110251)_(5 1124545_51127770)d el | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 51,106,231 | 51,110,251 | 51,124,545 | 51,127,770 |
essv97114 | Remapped | Perfect | NC_000019.9:g.(511 10860_51111092)_(5 1111666_51124545)d el | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 51,110,860 | 51,111,092 | 51,111,666 | 51,124,545 |
essv95023 | Submitted genomic | NC_000019.8:g.(557 98043_55802063)_(5 5803478_55816357)d up | NCBI35 (hg17) | NC_000019.8 | Chr19 | 55,798,043 | 55,802,063 | 55,803,478 | 55,816,357 | ||
essv94421 | Submitted genomic | NC_000019.8:g.(557 98043_55802063)_(5 5816357_55819582)d el | NCBI35 (hg17) | NC_000019.8 | Chr19 | 55,798,043 | 55,802,063 | 55,816,357 | 55,819,582 | ||
essv95531 | Submitted genomic | NC_000019.8:g.(557 98043_55802063)_(5 5816357_55819582)d el | NCBI35 (hg17) | NC_000019.8 | Chr19 | 55,798,043 | 55,802,063 | 55,816,357 | 55,819,582 | ||
essv95788 | Submitted genomic | NC_000019.8:g.(557 98043_55802063)_(5 5816357_55819582)d el | NCBI35 (hg17) | NC_000019.8 | Chr19 | 55,798,043 | 55,802,063 | 55,816,357 | 55,819,582 | ||
essv97114 | Submitted genomic | NC_000019.8:g.(558 02672_55802904)_(5 5803478_55816357)d el | NCBI35 (hg17) | NC_000019.8 | Chr19 | 55,802,672 | 55,802,904 | 55,803,478 | 55,816,357 |