esv3398378
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:16
- Validation:Fail
- Clinical Assertions: No
- Region Size:31,333
- 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: 202 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 202 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 79 SVs from 11 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3398378 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 69,191,441 (-19, +12) | 69,222,773 (-18, +12) |
| esv3398378 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 69,240,592 (-19, +12) | 69,271,924 (-18, +12) |
| esv3398378 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 69,323,282 (-19, +12) | 69,354,614 (-18, +12) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7650675 | deletion | SAMN00001696 | Sequencing | Split read mapping | 44,056 |
| essv7650677 | deletion | SAMN00001583 | Sequencing | Split read mapping | 12,092 |
| essv7650678 | deletion | SAMN00801241 | Sequencing | Split read mapping | 14,163 |
| essv7650679 | deletion | SAMN00001612 | Sequencing | Split read mapping | 15,685 |
| essv7650680 | deletion | SAMN00001671 | Sequencing | Split read mapping | 10,275 |
| essv7650681 | deletion | SAMN00801888 | Sequencing | Split read mapping | 69,298 |
| essv7650682 | deletion | SAMN00001647 | Sequencing | Split read mapping | 26,594 |
| essv7650683 | deletion | SAMN00001569 | Sequencing | Split read mapping | 9,598 |
| essv7650684 | deletion | SAMN00001649 | Sequencing | Split read mapping | 13,082 |
| essv7650685 | deletion | SAMN00801099 | Sequencing | Split read mapping | 14,647 |
| essv7650686 | deletion | SAMN00800266 | Sequencing | Split read mapping | 11,909 |
| essv7650688 | deletion | SAMN00001640 | Sequencing | Split read mapping | 13,740 |
| essv7650689 | deletion | SAMN00001589 | Sequencing | Split read mapping | 10,468 |
| essv7650690 | deletion | SAMN00800835 | Sequencing | Split read mapping | 10,547 |
| essv7650691 | deletion | SAMN00001648 | Sequencing | Split read mapping | 15,747 |
| essv7650692 | deletion | SAMN00001617 | Sequencing | Split read mapping | 15,543 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7650675 | Remapped | Perfect | NC_000003.12:g.(69 191422_69191453)_( 69222755_69222785) del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 69,191,441 (-19, +12) | 69,222,773 (-18, +12) |
| essv7650677 | Remapped | Perfect | NC_000003.12:g.(69 191422_69191453)_( 69222755_69222785) del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 69,191,441 (-19, +12) | 69,222,773 (-18, +12) |
| essv7650678 | Remapped | Perfect | NC_000003.12:g.(69 191422_69191453)_( 69222755_69222785) del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 69,191,441 (-19, +12) | 69,222,773 (-18, +12) |
| essv7650679 | Remapped | Perfect | NC_000003.12:g.(69 191422_69191453)_( 69222755_69222785) del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 69,191,441 (-19, +12) | 69,222,773 (-18, +12) |
| essv7650680 | Remapped | Perfect | NC_000003.12:g.(69 191422_69191453)_( 69222755_69222785) del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 69,191,441 (-19, +12) | 69,222,773 (-18, +12) |
| essv7650681 | Remapped | Perfect | NC_000003.12:g.(69 191422_69191453)_( 69222755_69222785) del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 69,191,441 (-19, +12) | 69,222,773 (-18, +12) |
| essv7650682 | Remapped | Perfect | NC_000003.12:g.(69 191422_69191453)_( 69222755_69222785) del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 69,191,441 (-19, +12) | 69,222,773 (-18, +12) |
| essv7650683 | Remapped | Perfect | NC_000003.12:g.(69 191422_69191453)_( 69222755_69222785) del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 69,191,441 (-19, +12) | 69,222,773 (-18, +12) |
| essv7650684 | Remapped | Perfect | NC_000003.12:g.(69 191422_69191453)_( 69222755_69222785) del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 69,191,441 (-19, +12) | 69,222,773 (-18, +12) |
| essv7650685 | Remapped | Perfect | NC_000003.12:g.(69 191422_69191453)_( 69222755_69222785) del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 69,191,441 (-19, +12) | 69,222,773 (-18, +12) |
| essv7650686 | Remapped | Perfect | NC_000003.12:g.(69 191422_69191453)_( 69222755_69222785) del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 69,191,441 (-19, +12) | 69,222,773 (-18, +12) |
| essv7650688 | Remapped | Perfect | NC_000003.12:g.(69 191422_69191453)_( 69222755_69222785) del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 69,191,441 (-19, +12) | 69,222,773 (-18, +12) |
| essv7650689 | Remapped | Perfect | NC_000003.12:g.(69 191422_69191453)_( 69222755_69222785) del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 69,191,441 (-19, +12) | 69,222,773 (-18, +12) |
| essv7650690 | Remapped | Perfect | NC_000003.12:g.(69 191422_69191453)_( 69222755_69222785) del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 69,191,441 (-19, +12) | 69,222,773 (-18, +12) |
| essv7650691 | Remapped | Perfect | NC_000003.12:g.(69 191422_69191453)_( 69222755_69222785) del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 69,191,441 (-19, +12) | 69,222,773 (-18, +12) |
| essv7650692 | Remapped | Perfect | NC_000003.12:g.(69 191422_69191453)_( 69222755_69222785) del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 69,191,441 (-19, +12) | 69,222,773 (-18, +12) |
| essv7650675 | Remapped | Perfect | NC_000003.11:g.(69 240573_69240604)_( 69271906_69271936) del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 69,240,592 (-19, +12) | 69,271,924 (-18, +12) |
| essv7650677 | Remapped | Perfect | NC_000003.11:g.(69 240573_69240604)_( 69271906_69271936) del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 69,240,592 (-19, +12) | 69,271,924 (-18, +12) |
| essv7650678 | Remapped | Perfect | NC_000003.11:g.(69 240573_69240604)_( 69271906_69271936) del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 69,240,592 (-19, +12) | 69,271,924 (-18, +12) |
| essv7650679 | Remapped | Perfect | NC_000003.11:g.(69 240573_69240604)_( 69271906_69271936) del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 69,240,592 (-19, +12) | 69,271,924 (-18, +12) |
| essv7650680 | Remapped | Perfect | NC_000003.11:g.(69 240573_69240604)_( 69271906_69271936) del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 69,240,592 (-19, +12) | 69,271,924 (-18, +12) |
| essv7650681 | Remapped | Perfect | NC_000003.11:g.(69 240573_69240604)_( 69271906_69271936) del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 69,240,592 (-19, +12) | 69,271,924 (-18, +12) |
| essv7650682 | Remapped | Perfect | NC_000003.11:g.(69 240573_69240604)_( 69271906_69271936) del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 69,240,592 (-19, +12) | 69,271,924 (-18, +12) |
| essv7650683 | Remapped | Perfect | NC_000003.11:g.(69 240573_69240604)_( 69271906_69271936) del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 69,240,592 (-19, +12) | 69,271,924 (-18, +12) |
| essv7650684 | Remapped | Perfect | NC_000003.11:g.(69 240573_69240604)_( 69271906_69271936) del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 69,240,592 (-19, +12) | 69,271,924 (-18, +12) |
| essv7650685 | Remapped | Perfect | NC_000003.11:g.(69 240573_69240604)_( 69271906_69271936) del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 69,240,592 (-19, +12) | 69,271,924 (-18, +12) |
| essv7650686 | Remapped | Perfect | NC_000003.11:g.(69 240573_69240604)_( 69271906_69271936) del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 69,240,592 (-19, +12) | 69,271,924 (-18, +12) |
| essv7650688 | Remapped | Perfect | NC_000003.11:g.(69 240573_69240604)_( 69271906_69271936) del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 69,240,592 (-19, +12) | 69,271,924 (-18, +12) |
| essv7650689 | Remapped | Perfect | NC_000003.11:g.(69 240573_69240604)_( 69271906_69271936) del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 69,240,592 (-19, +12) | 69,271,924 (-18, +12) |
| essv7650690 | Remapped | Perfect | NC_000003.11:g.(69 240573_69240604)_( 69271906_69271936) del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 69,240,592 (-19, +12) | 69,271,924 (-18, +12) |
| essv7650691 | Remapped | Perfect | NC_000003.11:g.(69 240573_69240604)_( 69271906_69271936) del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 69,240,592 (-19, +12) | 69,271,924 (-18, +12) |
| essv7650692 | Remapped | Perfect | NC_000003.11:g.(69 240573_69240604)_( 69271906_69271936) del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 69,240,592 (-19, +12) | 69,271,924 (-18, +12) |
| essv7650675 | Submitted genomic | NC_000003.10:g.(69 323263_69323294)_( 69354596_69354626) del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 69,323,282 (-19, +12) | 69,354,614 (-18, +12) | ||
| essv7650677 | Submitted genomic | NC_000003.10:g.(69 323263_69323294)_( 69354596_69354626) del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 69,323,282 (-19, +12) | 69,354,614 (-18, +12) | ||
| essv7650678 | Submitted genomic | NC_000003.10:g.(69 323263_69323294)_( 69354596_69354626) del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 69,323,282 (-19, +12) | 69,354,614 (-18, +12) | ||
| essv7650679 | Submitted genomic | NC_000003.10:g.(69 323263_69323294)_( 69354596_69354626) del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 69,323,282 (-19, +12) | 69,354,614 (-18, +12) | ||
| essv7650680 | Submitted genomic | NC_000003.10:g.(69 323263_69323294)_( 69354596_69354626) del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 69,323,282 (-19, +12) | 69,354,614 (-18, +12) | ||
| essv7650681 | Submitted genomic | NC_000003.10:g.(69 323263_69323294)_( 69354596_69354626) del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 69,323,282 (-19, +12) | 69,354,614 (-18, +12) | ||
| essv7650682 | Submitted genomic | NC_000003.10:g.(69 323263_69323294)_( 69354596_69354626) del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 69,323,282 (-19, +12) | 69,354,614 (-18, +12) | ||
| essv7650683 | Submitted genomic | NC_000003.10:g.(69 323263_69323294)_( 69354596_69354626) del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 69,323,282 (-19, +12) | 69,354,614 (-18, +12) | ||
| essv7650684 | Submitted genomic | NC_000003.10:g.(69 323263_69323294)_( 69354596_69354626) del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 69,323,282 (-19, +12) | 69,354,614 (-18, +12) | ||
| essv7650685 | Submitted genomic | NC_000003.10:g.(69 323263_69323294)_( 69354596_69354626) del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 69,323,282 (-19, +12) | 69,354,614 (-18, +12) | ||
| essv7650686 | Submitted genomic | NC_000003.10:g.(69 323263_69323294)_( 69354596_69354626) del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 69,323,282 (-19, +12) | 69,354,614 (-18, +12) | ||
| essv7650688 | Submitted genomic | NC_000003.10:g.(69 323263_69323294)_( 69354596_69354626) del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 69,323,282 (-19, +12) | 69,354,614 (-18, +12) | ||
| essv7650689 | Submitted genomic | NC_000003.10:g.(69 323263_69323294)_( 69354596_69354626) del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 69,323,282 (-19, +12) | 69,354,614 (-18, +12) | ||
| essv7650690 | Submitted genomic | NC_000003.10:g.(69 323263_69323294)_( 69354596_69354626) del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 69,323,282 (-19, +12) | 69,354,614 (-18, +12) | ||
| essv7650691 | Submitted genomic | NC_000003.10:g.(69 323263_69323294)_( 69354596_69354626) del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 69,323,282 (-19, +12) | 69,354,614 (-18, +12) | ||
| essv7650692 | Submitted genomic | NC_000003.10:g.(69 323263_69323294)_( 69354596_69354626) del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 69,323,282 (-19, +12) | 69,354,614 (-18, +12) |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv7650683 | 36 | SAMN00001569 | Digital array | Other | Fail |
| essv7650683 | 38 | SAMN00001569 | Digital array | Other | Fail |
| essv7650677 | 36 | SAMN00001583 | Digital array | Other | Fail |
| essv7650677 | 38 | SAMN00001583 | Digital array | Other | Fail |
| essv7650689 | 36 | SAMN00001589 | Digital array | Other | Fail |
| essv7650689 | 38 | SAMN00001589 | Digital array | Other | Fail |
| essv7650679 | 36 | SAMN00001612 | Digital array | Other | Fail |
| essv7650679 | 38 | SAMN00001612 | Digital array | Other | Fail |
| essv7650692 | 36 | SAMN00001617 | Digital array | Other | Fail |
| essv7650692 | 38 | SAMN00001617 | Digital array | Other | Fail |
| essv7650688 | 36 | SAMN00001640 | Digital array | Other | Fail |
| essv7650688 | 38 | SAMN00001640 | Digital array | Other | Fail |
| essv7650682 | 36 | SAMN00001647 | Digital array | Other | Fail |
| essv7650682 | 38 | SAMN00001647 | Digital array | Other | Fail |
| essv7650691 | 36 | SAMN00001648 | Digital array | Other | Fail |
| essv7650691 | 38 | SAMN00001648 | Digital array | Other | Fail |
| essv7650684 | 36 | SAMN00001649 | Digital array | Other | Fail |
| essv7650684 | 38 | SAMN00001649 | Digital array | Other | Fail |
| essv7650680 | 36 | SAMN00001671 | Digital array | Other | Fail |
| essv7650680 | 38 | SAMN00001671 | Digital array | Other | Fail |
| essv7650675 | 36 | SAMN00001696 | Digital array | Other | Fail |
| essv7650675 | 38 | SAMN00001696 | Digital array | Other | Fail |
| essv7650686 | 36 | SAMN00800266 | Digital array | Other | Fail |
| essv7650686 | 38 | SAMN00800266 | Digital array | Other | Fail |
| essv7650690 | 36 | SAMN00800835 | Digital array | Other | Fail |
| essv7650690 | 38 | SAMN00800835 | Digital array | Other | Fail |
| essv7650685 | 36 | SAMN00801099 | Digital array | Other | Fail |
| essv7650685 | 38 | SAMN00801099 | Digital array | Other | Fail |
| essv7650678 | 36 | SAMN00801241 | Digital array | Other | Fail |
| essv7650678 | 38 | SAMN00801241 | Digital array | Other | Fail |
| essv7650681 | 36 | SAMN00801888 | Digital array | Other | Fail |
| essv7650681 | 38 | SAMN00801888 | Digital array | Other | Fail |