esv3503874
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:11
- Validation:Yes
- Clinical Assertions: No
- Region Size:47,781
- Publication(s):1000 Genomes Project Consortium et al. 2010
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: 718 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 718 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 382 SVs from 31 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3503874 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 11,362,170 (-73, +127) | 11,409,950 (-120, +70) |
| esv3503874 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 11,515,104 (-73, +127) | 11,562,884 (-120, +70) |
| esv3503874 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 11,406,371 (-73, +127) | 11,454,151 (-120, +70) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7963083 | deletion | SAMN00800835 | Sequencing | Paired-end mapping | 10,547 |
| essv7963084 | deletion | SAMN00800266 | Sequencing | Paired-end mapping | 11,909 |
| essv7963085 | deletion | SAMN00801680 | Sequencing | Paired-end mapping | 19,937 |
| essv7963086 | deletion | SAMN00001591 | Sequencing | Paired-end mapping | 13,341 |
| essv7963088 | deletion | SAMN00001538 | Sequencing | Paired-end mapping | 26,254 |
| essv7963089 | deletion | SAMN00001625 | Sequencing | Paired-end mapping | 10,737 |
| essv7963090 | deletion | SAMN00001588 | Sequencing | Paired-end mapping | 10,183 |
| essv7963091 | deletion | SAMN00001534 | Sequencing | Paired-end mapping | 9,499 |
| essv7963092 | deletion | SAMN00797419 | Sequencing | Paired-end mapping | 10,938 |
| essv7963093 | deletion | SAMN00801099 | Sequencing | Paired-end mapping | 14,647 |
| essv7963094 | deletion | SAMN00801029 | Sequencing | Paired-end mapping | 14,389 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7963083 | Remapped | Perfect | NC_000012.12:g.(11 362097_11362297)_( 11409830_11410020) del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,362,170 (-73, +127) | 11,409,950 (-120, +70) |
| essv7963084 | Remapped | Perfect | NC_000012.12:g.(11 362097_11362297)_( 11409830_11410020) del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,362,170 (-73, +127) | 11,409,950 (-120, +70) |
| essv7963085 | Remapped | Perfect | NC_000012.12:g.(11 362097_11362297)_( 11409830_11410020) del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,362,170 (-73, +127) | 11,409,950 (-120, +70) |
| essv7963086 | Remapped | Perfect | NC_000012.12:g.(11 362097_11362297)_( 11409830_11410020) del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,362,170 (-73, +127) | 11,409,950 (-120, +70) |
| essv7963088 | Remapped | Perfect | NC_000012.12:g.(11 362097_11362297)_( 11409830_11410020) del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,362,170 (-73, +127) | 11,409,950 (-120, +70) |
| essv7963089 | Remapped | Perfect | NC_000012.12:g.(11 362097_11362297)_( 11409830_11410020) del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,362,170 (-73, +127) | 11,409,950 (-120, +70) |
| essv7963090 | Remapped | Perfect | NC_000012.12:g.(11 362097_11362297)_( 11409830_11410020) del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,362,170 (-73, +127) | 11,409,950 (-120, +70) |
| essv7963091 | Remapped | Perfect | NC_000012.12:g.(11 362097_11362297)_( 11409830_11410020) del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,362,170 (-73, +127) | 11,409,950 (-120, +70) |
| essv7963092 | Remapped | Perfect | NC_000012.12:g.(11 362097_11362297)_( 11409830_11410020) del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,362,170 (-73, +127) | 11,409,950 (-120, +70) |
| essv7963093 | Remapped | Perfect | NC_000012.12:g.(11 362097_11362297)_( 11409830_11410020) del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,362,170 (-73, +127) | 11,409,950 (-120, +70) |
| essv7963094 | Remapped | Perfect | NC_000012.12:g.(11 362097_11362297)_( 11409830_11410020) del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,362,170 (-73, +127) | 11,409,950 (-120, +70) |
| essv7963083 | Remapped | Perfect | NC_000012.11:g.(11 515031_11515231)_( 11562764_11562954) del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 11,515,104 (-73, +127) | 11,562,884 (-120, +70) |
| essv7963084 | Remapped | Perfect | NC_000012.11:g.(11 515031_11515231)_( 11562764_11562954) del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 11,515,104 (-73, +127) | 11,562,884 (-120, +70) |
| essv7963085 | Remapped | Perfect | NC_000012.11:g.(11 515031_11515231)_( 11562764_11562954) del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 11,515,104 (-73, +127) | 11,562,884 (-120, +70) |
| essv7963086 | Remapped | Perfect | NC_000012.11:g.(11 515031_11515231)_( 11562764_11562954) del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 11,515,104 (-73, +127) | 11,562,884 (-120, +70) |
| essv7963088 | Remapped | Perfect | NC_000012.11:g.(11 515031_11515231)_( 11562764_11562954) del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 11,515,104 (-73, +127) | 11,562,884 (-120, +70) |
| essv7963089 | Remapped | Perfect | NC_000012.11:g.(11 515031_11515231)_( 11562764_11562954) del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 11,515,104 (-73, +127) | 11,562,884 (-120, +70) |
| essv7963090 | Remapped | Perfect | NC_000012.11:g.(11 515031_11515231)_( 11562764_11562954) del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 11,515,104 (-73, +127) | 11,562,884 (-120, +70) |
| essv7963091 | Remapped | Perfect | NC_000012.11:g.(11 515031_11515231)_( 11562764_11562954) del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 11,515,104 (-73, +127) | 11,562,884 (-120, +70) |
| essv7963092 | Remapped | Perfect | NC_000012.11:g.(11 515031_11515231)_( 11562764_11562954) del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 11,515,104 (-73, +127) | 11,562,884 (-120, +70) |
| essv7963093 | Remapped | Perfect | NC_000012.11:g.(11 515031_11515231)_( 11562764_11562954) del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 11,515,104 (-73, +127) | 11,562,884 (-120, +70) |
| essv7963094 | Remapped | Perfect | NC_000012.11:g.(11 515031_11515231)_( 11562764_11562954) del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 11,515,104 (-73, +127) | 11,562,884 (-120, +70) |
| essv7963083 | Submitted genomic | NC_000012.10:g.(11 406298_11406498)_( 11454031_11454221) del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 11,406,371 (-73, +127) | 11,454,151 (-120, +70) | ||
| essv7963084 | Submitted genomic | NC_000012.10:g.(11 406298_11406498)_( 11454031_11454221) del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 11,406,371 (-73, +127) | 11,454,151 (-120, +70) | ||
| essv7963085 | Submitted genomic | NC_000012.10:g.(11 406298_11406498)_( 11454031_11454221) del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 11,406,371 (-73, +127) | 11,454,151 (-120, +70) | ||
| essv7963086 | Submitted genomic | NC_000012.10:g.(11 406298_11406498)_( 11454031_11454221) del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 11,406,371 (-73, +127) | 11,454,151 (-120, +70) | ||
| essv7963088 | Submitted genomic | NC_000012.10:g.(11 406298_11406498)_( 11454031_11454221) del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 11,406,371 (-73, +127) | 11,454,151 (-120, +70) | ||
| essv7963089 | Submitted genomic | NC_000012.10:g.(11 406298_11406498)_( 11454031_11454221) del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 11,406,371 (-73, +127) | 11,454,151 (-120, +70) | ||
| essv7963090 | Submitted genomic | NC_000012.10:g.(11 406298_11406498)_( 11454031_11454221) del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 11,406,371 (-73, +127) | 11,454,151 (-120, +70) | ||
| essv7963091 | Submitted genomic | NC_000012.10:g.(11 406298_11406498)_( 11454031_11454221) del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 11,406,371 (-73, +127) | 11,454,151 (-120, +70) | ||
| essv7963092 | Submitted genomic | NC_000012.10:g.(11 406298_11406498)_( 11454031_11454221) del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 11,406,371 (-73, +127) | 11,454,151 (-120, +70) | ||
| essv7963093 | Submitted genomic | NC_000012.10:g.(11 406298_11406498)_( 11454031_11454221) del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 11,406,371 (-73, +127) | 11,454,151 (-120, +70) | ||
| essv7963094 | Submitted genomic | NC_000012.10:g.(11 406298_11406498)_( 11454031_11454221) del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 11,406,371 (-73, +127) | 11,454,151 (-120, +70) |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv7963091 | 36 | SAMN00001534 | Digital array | Other | Pass |
| essv7963091 | 38 | SAMN00001534 | Digital array | Other | Pass |
| essv7963088 | 36 | SAMN00001538 | Digital array | Other | Pass |
| essv7963088 | 38 | SAMN00001538 | Digital array | Other | Pass |
| essv7963090 | 36 | SAMN00001588 | Digital array | Other | Pass |
| essv7963090 | 38 | SAMN00001588 | Digital array | Other | Pass |
| essv7963086 | 36 | SAMN00001591 | Digital array | Other | Pass |
| essv7963086 | 38 | SAMN00001591 | Digital array | Other | Pass |
| essv7963089 | 36 | SAMN00001625 | Digital array | Other | Pass |
| essv7963089 | 38 | SAMN00001625 | Digital array | Other | Pass |
| essv7963092 | 36 | SAMN00797419 | Digital array | Other | Pass |
| essv7963092 | 38 | SAMN00797419 | Digital array | Other | Pass |
| essv7963084 | 36 | SAMN00800266 | Digital array | Other | Pass |
| essv7963084 | 38 | SAMN00800266 | Digital array | Other | Pass |
| essv7963083 | 36 | SAMN00800835 | Digital array | Other | Pass |
| essv7963083 | 38 | SAMN00800835 | Digital array | Other | Pass |
| essv7963094 | 36 | SAMN00801029 | Digital array | Other | Pass |
| essv7963094 | 38 | SAMN00801029 | Digital array | Other | Pass |
| essv7963093 | 36 | SAMN00801099 | Digital array | Other | Pass |
| essv7963093 | 38 | SAMN00801099 | Digital array | Other | Pass |
| essv7963085 | 36 | SAMN00801680 | Digital array | Other | Pass |
| essv7963085 | 38 | SAMN00801680 | Digital array | Other | Pass |