esv34659
- Organism: Homo sapiens
- Study:estd55 (Pinto et al. 2007)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:8
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2,001,867
- Description:Sample level SV from stringent call set
- Publication(s):Pinto 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: 5409 SVs from 111 studies. See in: genome view
Overlapping variant regions from other studies: 5409 SVs from 111 studies. See in: genome view
Overlapping variant regions from other studies: 301 SVs from 15 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv34659 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 150,858,366 | 152,860,232 |
| esv34659 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 151,714,880 | 153,716,746 |
| esv34659 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000002.9 | Chr2 | 151,540,388 | 153,542,254 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv6980508 | copy number loss | NA19203 | SNP array | SNP genotyping analysis | 25 |
| essv6987802 | copy number loss | NA19203 | SNP array | SNP genotyping analysis | 25 |
| essv6989180 | copy number loss | NA19203 | SNP array | SNP genotyping analysis | 25 |
| essv6980509 | copy number loss | NA19203 | SNP array | SNP genotyping analysis | 25 |
| essv6980510 | copy number loss | NA19203 | SNP array | SNP genotyping analysis | 25 |
| essv6987803 | copy number loss | NA19203 | SNP array | SNP genotyping analysis | 25 |
| essv6980511 | copy number loss | NA19203 | SNP array | SNP genotyping analysis | 25 |
| essv6980512 | copy number loss | NA19203 | SNP array | SNP genotyping analysis | 25 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv6980508 | Remapped | Perfect | NC_000002.12:g.(?_ 150858366)_(152859 880_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 150,858,366 | 152,859,880 |
| essv6987802 | Remapped | Perfect | NC_000002.12:g.(?_ 150869278)_(152860 232_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 150,869,278 | 152,860,232 |
| essv6989180 | Remapped | Perfect | NC_000002.12:g.(?_ 150882834)_(152856 539_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 150,882,834 | 152,856,539 |
| essv6980509 | Remapped | Perfect | NC_000002.12:g.(?_ 150882978)_(151089 978_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 150,882,978 | 151,089,978 |
| essv6980510 | Remapped | Perfect | NC_000002.12:g.(?_ 151006978)_(152336 978_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 151,006,978 | 152,336,978 |
| essv6987803 | Remapped | Perfect | NC_000002.12:g.(?_ 151277978)_(152012 978_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 151,277,978 | 152,012,978 |
| essv6980511 | Remapped | Perfect | NC_000002.12:g.(?_ 152119978)_(152670 978_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 152,119,978 | 152,670,978 |
| essv6980512 | Remapped | Perfect | NC_000002.12:g.(?_ 152489978)_(152827 978_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 152,489,978 | 152,827,978 |
| essv6980508 | Remapped | Perfect | NC_000002.11:g.(?_ 151714880)_(153716 394_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 151,714,880 | 153,716,394 |
| essv6987802 | Remapped | Perfect | NC_000002.11:g.(?_ 151725792)_(153716 746_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 151,725,792 | 153,716,746 |
| essv6989180 | Remapped | Perfect | NC_000002.11:g.(?_ 151739348)_(153713 053_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 151,739,348 | 153,713,053 |
| essv6980509 | Remapped | Perfect | NC_000002.11:g.(?_ 151739492)_(151946 492_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 151,739,492 | 151,946,492 |
| essv6980510 | Remapped | Perfect | NC_000002.11:g.(?_ 151863492)_(153193 492_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 151,863,492 | 153,193,492 |
| essv6987803 | Remapped | Perfect | NC_000002.11:g.(?_ 152134492)_(152869 492_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 152,134,492 | 152,869,492 |
| essv6980511 | Remapped | Perfect | NC_000002.11:g.(?_ 152976492)_(153527 492_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 152,976,492 | 153,527,492 |
| essv6980512 | Remapped | Perfect | NC_000002.11:g.(?_ 153346492)_(153684 492_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 153,346,492 | 153,684,492 |
| essv6980508 | Submitted genomic | NC_000002.9:g.(?_1 51540388)_(1535419 02_?)del | NCBI35 (hg17) | NC_000002.9 | Chr2 | 151,540,388 | 153,541,902 | ||
| essv6987802 | Submitted genomic | NC_000002.9:g.(?_1 51551300)_(1535422 54_?)del | NCBI35 (hg17) | NC_000002.9 | Chr2 | 151,551,300 | 153,542,254 | ||
| essv6989180 | Submitted genomic | NC_000002.9:g.(?_1 51564856)_(1535385 61_?)del | NCBI35 (hg17) | NC_000002.9 | Chr2 | 151,564,856 | 153,538,561 | ||
| essv6980509 | Submitted genomic | NC_000002.9:g.(?_1 51565000)_(1517720 00_?)del | NCBI35 (hg17) | NC_000002.9 | Chr2 | 151,565,000 | 151,772,000 | ||
| essv6980510 | Submitted genomic | NC_000002.9:g.(?_1 51689000)_(1530190 00_?)del | NCBI35 (hg17) | NC_000002.9 | Chr2 | 151,689,000 | 153,019,000 | ||
| essv6987803 | Submitted genomic | NC_000002.9:g.(?_1 51960000)_(1526950 00_?)del | NCBI35 (hg17) | NC_000002.9 | Chr2 | 151,960,000 | 152,695,000 | ||
| essv6980511 | Submitted genomic | NC_000002.9:g.(?_1 52802000)_(1533530 00_?)del | NCBI35 (hg17) | NC_000002.9 | Chr2 | 152,802,000 | 153,353,000 | ||
| essv6980512 | Submitted genomic | NC_000002.9:g.(?_1 53172000)_(1535100 00_?)del | NCBI35 (hg17) | NC_000002.9 | Chr2 | 153,172,000 | 153,510,000 |