esv32726
- 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:13
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2,554
- 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: 707 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 704 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 44 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 | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv32726 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 76,515,746 | 76,518,299 |
| esv32726 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 76,145,063 | 76,147,616 |
| esv32726 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000007.11 | Chr7 | 75,789,714 | 75,792,267 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv96776 | copy number gain | 21659 | Oligo aCGH | Probe signal intensity | 128 |
| essv95592 | copy number loss | 21841 | Oligo aCGH | Probe signal intensity | 196 |
| essv98255 | copy number loss | 21772 | Oligo aCGH | Probe signal intensity | 211 |
| essv98881 | copy number loss | 21606 | Oligo aCGH | Probe signal intensity | 282 |
| essv100730 | copy number loss | 21656 | Oligo aCGH | Probe signal intensity | 288 |
| essv92779 | copy number gain | 21944 | Oligo aCGH | Probe signal intensity | 167 |
| essv92936 | copy number loss | 21939 | Oligo aCGH | Probe signal intensity | 168 |
| essv94261 | copy number loss | 22394 | Oligo aCGH | Probe signal intensity | 161 |
| essv94410 | copy number gain | 21808 | Oligo aCGH | Probe signal intensity | 172 |
| essv95059 | copy number loss | 21721 | Oligo aCGH | Probe signal intensity | 184 |
| essv98045 | copy number loss | 22259 | Oligo aCGH | Probe signal intensity | 159 |
| essv98452 | copy number gain | 22352 | Oligo aCGH | Probe signal intensity | 185 |
| essv98597 | copy number loss | 22085 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv96776 | Remapped | Pass | NT_187561.1:g.(144 87_14487)_(47620_4 7620)dup | GRCh38.p12 | Second Pass | NT_187561.1 | Chr7|NT_18 7561.1 | 14,487 | 14,487 | 47,620 | 47,620 |
| essv95592 | Remapped | Perfect | NC_000007.14:g.(76 515400_76515746)_( 76516055_76516281) del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 76,515,400 | 76,515,746 | 76,516,055 | 76,516,281 |
| essv98255 | Remapped | Perfect | NC_000007.14:g.(76 515400_76515746)_( 76516055_76516281) del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 76,515,400 | 76,515,746 | 76,516,055 | 76,516,281 |
| essv98881 | Remapped | Perfect | NC_000007.14:g.(76 515400_76515746)_( 76516055_76516281) del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 76,515,400 | 76,515,746 | 76,516,055 | 76,516,281 |
| essv100730 | Remapped | Perfect | NC_000007.14:g.(76 515400_76515746)_( 76516827_76518299) del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 76,515,400 | 76,515,746 | 76,516,827 | 76,518,299 |
| essv92779 | Remapped | Perfect | NC_000007.14:g.(76 515400_76515746)_( 76516827_76518299) dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 76,515,400 | 76,515,746 | 76,516,827 | 76,518,299 |
| essv92936 | Remapped | Perfect | NC_000007.14:g.(76 515400_76515746)_( 76516827_76518299) del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 76,515,400 | 76,515,746 | 76,516,827 | 76,518,299 |
| essv94261 | Remapped | Perfect | NC_000007.14:g.(76 515400_76515746)_( 76516827_76518299) del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 76,515,400 | 76,515,746 | 76,516,827 | 76,518,299 |
| essv94410 | Remapped | Perfect | NC_000007.14:g.(76 515400_76515746)_( 76516827_76518299) dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 76,515,400 | 76,515,746 | 76,516,827 | 76,518,299 |
| essv95059 | Remapped | Perfect | NC_000007.14:g.(76 515400_76515746)_( 76516827_76518299) del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 76,515,400 | 76,515,746 | 76,516,827 | 76,518,299 |
| essv98045 | Remapped | Perfect | NC_000007.14:g.(76 515400_76515746)_( 76516827_76518299) del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 76,515,400 | 76,515,746 | 76,516,827 | 76,518,299 |
| essv98452 | Remapped | Perfect | NC_000007.14:g.(76 515400_76515746)_( 76516827_76518299) dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 76,515,400 | 76,515,746 | 76,516,827 | 76,518,299 |
| essv98597 | Remapped | Perfect | NC_000007.14:g.(76 515400_76515746)_( 76516827_76518299) del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 76,515,400 | 76,515,746 | 76,516,827 | 76,518,299 |
| essv96776 | Remapped | Perfect | NC_000007.14:g.(76 515400_76515746)_( 76518299_76560785) dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 76,515,400 | 76,515,746 | 76,518,299 | 76,560,785 |
| essv95592 | Remapped | Perfect | NC_000007.13:g.(76 144717_76145063)_( 76145372_76145598) del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 76,144,717 | 76,145,063 | 76,145,372 | 76,145,598 |
| essv98255 | Remapped | Perfect | NC_000007.13:g.(76 144717_76145063)_( 76145372_76145598) del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 76,144,717 | 76,145,063 | 76,145,372 | 76,145,598 |
| essv98881 | Remapped | Perfect | NC_000007.13:g.(76 144717_76145063)_( 76145372_76145598) del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 76,144,717 | 76,145,063 | 76,145,372 | 76,145,598 |
| essv100730 | Remapped | Perfect | NC_000007.13:g.(76 144717_76145063)_( 76146144_76147616) del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 76,144,717 | 76,145,063 | 76,146,144 | 76,147,616 |
| essv92779 | Remapped | Perfect | NC_000007.13:g.(76 144717_76145063)_( 76146144_76147616) dup | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 76,144,717 | 76,145,063 | 76,146,144 | 76,147,616 |
| essv92936 | Remapped | Perfect | NC_000007.13:g.(76 144717_76145063)_( 76146144_76147616) del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 76,144,717 | 76,145,063 | 76,146,144 | 76,147,616 |
| essv94261 | Remapped | Perfect | NC_000007.13:g.(76 144717_76145063)_( 76146144_76147616) del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 76,144,717 | 76,145,063 | 76,146,144 | 76,147,616 |
| essv94410 | Remapped | Perfect | NC_000007.13:g.(76 144717_76145063)_( 76146144_76147616) dup | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 76,144,717 | 76,145,063 | 76,146,144 | 76,147,616 |
| essv95059 | Remapped | Perfect | NC_000007.13:g.(76 144717_76145063)_( 76146144_76147616) del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 76,144,717 | 76,145,063 | 76,146,144 | 76,147,616 |
| essv98045 | Remapped | Perfect | NC_000007.13:g.(76 144717_76145063)_( 76146144_76147616) del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 76,144,717 | 76,145,063 | 76,146,144 | 76,147,616 |
| essv98452 | Remapped | Perfect | NC_000007.13:g.(76 144717_76145063)_( 76146144_76147616) dup | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 76,144,717 | 76,145,063 | 76,146,144 | 76,147,616 |
| essv98597 | Remapped | Perfect | NC_000007.13:g.(76 144717_76145063)_( 76146144_76147616) del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 76,144,717 | 76,145,063 | 76,146,144 | 76,147,616 |
| essv96776 | Remapped | Perfect | NC_000007.13:g.(76 144717_76145063)_( 76147616_76190102) dup | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 76,144,717 | 76,145,063 | 76,147,616 | 76,190,102 |
| essv95592 | Submitted genomic | NC_000007.11:g.(75 789368_75789714)_( 75790023_75790249) del | NCBI35 (hg17) | NC_000007.11 | Chr7 | 75,789,368 | 75,789,714 | 75,790,023 | 75,790,249 | ||
| essv98255 | Submitted genomic | NC_000007.11:g.(75 789368_75789714)_( 75790023_75790249) del | NCBI35 (hg17) | NC_000007.11 | Chr7 | 75,789,368 | 75,789,714 | 75,790,023 | 75,790,249 | ||
| essv98881 | Submitted genomic | NC_000007.11:g.(75 789368_75789714)_( 75790023_75790249) del | NCBI35 (hg17) | NC_000007.11 | Chr7 | 75,789,368 | 75,789,714 | 75,790,023 | 75,790,249 | ||
| essv100730 | Submitted genomic | NC_000007.11:g.(75 789368_75789714)_( 75790795_75792267) del | NCBI35 (hg17) | NC_000007.11 | Chr7 | 75,789,368 | 75,789,714 | 75,790,795 | 75,792,267 | ||
| essv92779 | Submitted genomic | NC_000007.11:g.(75 789368_75789714)_( 75790795_75792267) dup | NCBI35 (hg17) | NC_000007.11 | Chr7 | 75,789,368 | 75,789,714 | 75,790,795 | 75,792,267 | ||
| essv92936 | Submitted genomic | NC_000007.11:g.(75 789368_75789714)_( 75790795_75792267) del | NCBI35 (hg17) | NC_000007.11 | Chr7 | 75,789,368 | 75,789,714 | 75,790,795 | 75,792,267 | ||
| essv94261 | Submitted genomic | NC_000007.11:g.(75 789368_75789714)_( 75790795_75792267) del | NCBI35 (hg17) | NC_000007.11 | Chr7 | 75,789,368 | 75,789,714 | 75,790,795 | 75,792,267 | ||
| essv94410 | Submitted genomic | NC_000007.11:g.(75 789368_75789714)_( 75790795_75792267) dup | NCBI35 (hg17) | NC_000007.11 | Chr7 | 75,789,368 | 75,789,714 | 75,790,795 | 75,792,267 | ||
| essv95059 | Submitted genomic | NC_000007.11:g.(75 789368_75789714)_( 75790795_75792267) del | NCBI35 (hg17) | NC_000007.11 | Chr7 | 75,789,368 | 75,789,714 | 75,790,795 | 75,792,267 | ||
| essv98045 | Submitted genomic | NC_000007.11:g.(75 789368_75789714)_( 75790795_75792267) del | NCBI35 (hg17) | NC_000007.11 | Chr7 | 75,789,368 | 75,789,714 | 75,790,795 | 75,792,267 | ||
| essv98452 | Submitted genomic | NC_000007.11:g.(75 789368_75789714)_( 75790795_75792267) dup | NCBI35 (hg17) | NC_000007.11 | Chr7 | 75,789,368 | 75,789,714 | 75,790,795 | 75,792,267 | ||
| essv98597 | Submitted genomic | NC_000007.11:g.(75 789368_75789714)_( 75790795_75792267) del | NCBI35 (hg17) | NC_000007.11 | Chr7 | 75,789,368 | 75,789,714 | 75,790,795 | 75,792,267 | ||
| essv96776 | Submitted genomic | NC_000007.11:g.(75 789368_75789714)_( 75792267_75834753) dup | NCBI35 (hg17) | NC_000007.11 | Chr7 | 75,789,368 | 75,789,714 | 75,792,267 | 75,834,753 |