esv3422974
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:17
- Validation:Fail
- Clinical Assertions: No
- Region Size:33,723
- 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: 322 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 322 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 120 SVs from 7 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3422974 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 30,662,163 (-15, +5) | 30,695,885 (-14, +5) |
| esv3422974 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 30,680,280 (-15, +5) | 30,714,002 (-14, +5) |
| esv3422974 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 30,590,201 (-15, +5) | 30,623,923 (-14, +5) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7859203 | deletion | SAMN00001595 | Sequencing | Split read mapping | 16,103 |
| essv7859204 | deletion | SAMN00001613 | Sequencing | Split read mapping | 15,037 |
| essv7859205 | deletion | SAMN00001581 | Sequencing | Split read mapping | 12,254 |
| essv7859206 | deletion | SAMN00001694 | Sequencing | Split read mapping | 29,487 |
| essv7859207 | deletion | SAMN00001544 | Sequencing | Split read mapping | 15,303 |
| essv7859209 | deletion | SAMN00001665 | Sequencing | Split read mapping | 11,494 |
| essv7859210 | deletion | SAMN00001617 | Sequencing | Split read mapping | 15,543 |
| essv7859211 | deletion | SAMN00001601 | Sequencing | Split read mapping | 14,986 |
| essv7859212 | deletion | SAMN00801684 | Sequencing | Split read mapping | 16,980 |
| essv7859213 | deletion | SAMN00001663 | Sequencing | Split read mapping | 12,931 |
| essv7859214 | deletion | SAMN00797154 | Sequencing | Split read mapping | 12,042 |
| essv7859215 | deletion | SAMN00001610 | Sequencing | Split read mapping | 15,427 |
| essv7859216 | deletion | SAMN00001577 | Sequencing | Split read mapping | 9,631 |
| essv7859217 | deletion | SAMN00001668 | Sequencing | Split read mapping | 11,562 |
| essv7859218 | deletion | SAMN00800947 | Sequencing | Split read mapping | 10,286 |
| essv7859220 | deletion | SAMN00001629 | Sequencing | Split read mapping | 12,063 |
| essv7859221 | deletion | SAMN00001638 | Sequencing | Split read mapping | 14,476 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7859203 | Remapped | Perfect | NC_000023.11:g.(30 662148_30662168)_( 30695871_30695890) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 30,662,163 (-15, +5) | 30,695,885 (-14, +5) |
| essv7859204 | Remapped | Perfect | NC_000023.11:g.(30 662148_30662168)_( 30695871_30695890) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 30,662,163 (-15, +5) | 30,695,885 (-14, +5) |
| essv7859205 | Remapped | Perfect | NC_000023.11:g.(30 662148_30662168)_( 30695871_30695890) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 30,662,163 (-15, +5) | 30,695,885 (-14, +5) |
| essv7859206 | Remapped | Perfect | NC_000023.11:g.(30 662148_30662168)_( 30695871_30695890) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 30,662,163 (-15, +5) | 30,695,885 (-14, +5) |
| essv7859207 | Remapped | Perfect | NC_000023.11:g.(30 662148_30662168)_( 30695871_30695890) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 30,662,163 (-15, +5) | 30,695,885 (-14, +5) |
| essv7859209 | Remapped | Perfect | NC_000023.11:g.(30 662148_30662168)_( 30695871_30695890) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 30,662,163 (-15, +5) | 30,695,885 (-14, +5) |
| essv7859210 | Remapped | Perfect | NC_000023.11:g.(30 662148_30662168)_( 30695871_30695890) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 30,662,163 (-15, +5) | 30,695,885 (-14, +5) |
| essv7859211 | Remapped | Perfect | NC_000023.11:g.(30 662148_30662168)_( 30695871_30695890) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 30,662,163 (-15, +5) | 30,695,885 (-14, +5) |
| essv7859212 | Remapped | Perfect | NC_000023.11:g.(30 662148_30662168)_( 30695871_30695890) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 30,662,163 (-15, +5) | 30,695,885 (-14, +5) |
| essv7859213 | Remapped | Perfect | NC_000023.11:g.(30 662148_30662168)_( 30695871_30695890) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 30,662,163 (-15, +5) | 30,695,885 (-14, +5) |
| essv7859214 | Remapped | Perfect | NC_000023.11:g.(30 662148_30662168)_( 30695871_30695890) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 30,662,163 (-15, +5) | 30,695,885 (-14, +5) |
| essv7859215 | Remapped | Perfect | NC_000023.11:g.(30 662148_30662168)_( 30695871_30695890) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 30,662,163 (-15, +5) | 30,695,885 (-14, +5) |
| essv7859216 | Remapped | Perfect | NC_000023.11:g.(30 662148_30662168)_( 30695871_30695890) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 30,662,163 (-15, +5) | 30,695,885 (-14, +5) |
| essv7859217 | Remapped | Perfect | NC_000023.11:g.(30 662148_30662168)_( 30695871_30695890) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 30,662,163 (-15, +5) | 30,695,885 (-14, +5) |
| essv7859218 | Remapped | Perfect | NC_000023.11:g.(30 662148_30662168)_( 30695871_30695890) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 30,662,163 (-15, +5) | 30,695,885 (-14, +5) |
| essv7859220 | Remapped | Perfect | NC_000023.11:g.(30 662148_30662168)_( 30695871_30695890) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 30,662,163 (-15, +5) | 30,695,885 (-14, +5) |
| essv7859221 | Remapped | Perfect | NC_000023.11:g.(30 662148_30662168)_( 30695871_30695890) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 30,662,163 (-15, +5) | 30,695,885 (-14, +5) |
| essv7859203 | Remapped | Perfect | NC_000023.10:g.(30 680265_30680285)_( 30713988_30714007) del | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 30,680,280 (-15, +5) | 30,714,002 (-14, +5) |
| essv7859204 | Remapped | Perfect | NC_000023.10:g.(30 680265_30680285)_( 30713988_30714007) del | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 30,680,280 (-15, +5) | 30,714,002 (-14, +5) |
| essv7859205 | Remapped | Perfect | NC_000023.10:g.(30 680265_30680285)_( 30713988_30714007) del | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 30,680,280 (-15, +5) | 30,714,002 (-14, +5) |
| essv7859206 | Remapped | Perfect | NC_000023.10:g.(30 680265_30680285)_( 30713988_30714007) del | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 30,680,280 (-15, +5) | 30,714,002 (-14, +5) |
| essv7859207 | Remapped | Perfect | NC_000023.10:g.(30 680265_30680285)_( 30713988_30714007) del | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 30,680,280 (-15, +5) | 30,714,002 (-14, +5) |
| essv7859209 | Remapped | Perfect | NC_000023.10:g.(30 680265_30680285)_( 30713988_30714007) del | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 30,680,280 (-15, +5) | 30,714,002 (-14, +5) |
| essv7859210 | Remapped | Perfect | NC_000023.10:g.(30 680265_30680285)_( 30713988_30714007) del | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 30,680,280 (-15, +5) | 30,714,002 (-14, +5) |
| essv7859211 | Remapped | Perfect | NC_000023.10:g.(30 680265_30680285)_( 30713988_30714007) del | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 30,680,280 (-15, +5) | 30,714,002 (-14, +5) |
| essv7859212 | Remapped | Perfect | NC_000023.10:g.(30 680265_30680285)_( 30713988_30714007) del | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 30,680,280 (-15, +5) | 30,714,002 (-14, +5) |
| essv7859213 | Remapped | Perfect | NC_000023.10:g.(30 680265_30680285)_( 30713988_30714007) del | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 30,680,280 (-15, +5) | 30,714,002 (-14, +5) |
| essv7859214 | Remapped | Perfect | NC_000023.10:g.(30 680265_30680285)_( 30713988_30714007) del | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 30,680,280 (-15, +5) | 30,714,002 (-14, +5) |
| essv7859215 | Remapped | Perfect | NC_000023.10:g.(30 680265_30680285)_( 30713988_30714007) del | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 30,680,280 (-15, +5) | 30,714,002 (-14, +5) |
| essv7859216 | Remapped | Perfect | NC_000023.10:g.(30 680265_30680285)_( 30713988_30714007) del | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 30,680,280 (-15, +5) | 30,714,002 (-14, +5) |
| essv7859217 | Remapped | Perfect | NC_000023.10:g.(30 680265_30680285)_( 30713988_30714007) del | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 30,680,280 (-15, +5) | 30,714,002 (-14, +5) |
| essv7859218 | Remapped | Perfect | NC_000023.10:g.(30 680265_30680285)_( 30713988_30714007) del | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 30,680,280 (-15, +5) | 30,714,002 (-14, +5) |
| essv7859220 | Remapped | Perfect | NC_000023.10:g.(30 680265_30680285)_( 30713988_30714007) del | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 30,680,280 (-15, +5) | 30,714,002 (-14, +5) |
| essv7859221 | Remapped | Perfect | NC_000023.10:g.(30 680265_30680285)_( 30713988_30714007) del | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 30,680,280 (-15, +5) | 30,714,002 (-14, +5) |
| essv7859203 | Submitted genomic | NC_000023.9:g.(305 90186_30590206)_(3 0623909_30623928)d el | NCBI36 (hg18) | NC_000023.9 | ChrX | 30,590,201 (-15, +5) | 30,623,923 (-14, +5) | ||
| essv7859204 | Submitted genomic | NC_000023.9:g.(305 90186_30590206)_(3 0623909_30623928)d el | NCBI36 (hg18) | NC_000023.9 | ChrX | 30,590,201 (-15, +5) | 30,623,923 (-14, +5) | ||
| essv7859205 | Submitted genomic | NC_000023.9:g.(305 90186_30590206)_(3 0623909_30623928)d el | NCBI36 (hg18) | NC_000023.9 | ChrX | 30,590,201 (-15, +5) | 30,623,923 (-14, +5) | ||
| essv7859206 | Submitted genomic | NC_000023.9:g.(305 90186_30590206)_(3 0623909_30623928)d el | NCBI36 (hg18) | NC_000023.9 | ChrX | 30,590,201 (-15, +5) | 30,623,923 (-14, +5) | ||
| essv7859207 | Submitted genomic | NC_000023.9:g.(305 90186_30590206)_(3 0623909_30623928)d el | NCBI36 (hg18) | NC_000023.9 | ChrX | 30,590,201 (-15, +5) | 30,623,923 (-14, +5) | ||
| essv7859209 | Submitted genomic | NC_000023.9:g.(305 90186_30590206)_(3 0623909_30623928)d el | NCBI36 (hg18) | NC_000023.9 | ChrX | 30,590,201 (-15, +5) | 30,623,923 (-14, +5) | ||
| essv7859210 | Submitted genomic | NC_000023.9:g.(305 90186_30590206)_(3 0623909_30623928)d el | NCBI36 (hg18) | NC_000023.9 | ChrX | 30,590,201 (-15, +5) | 30,623,923 (-14, +5) | ||
| essv7859211 | Submitted genomic | NC_000023.9:g.(305 90186_30590206)_(3 0623909_30623928)d el | NCBI36 (hg18) | NC_000023.9 | ChrX | 30,590,201 (-15, +5) | 30,623,923 (-14, +5) | ||
| essv7859212 | Submitted genomic | NC_000023.9:g.(305 90186_30590206)_(3 0623909_30623928)d el | NCBI36 (hg18) | NC_000023.9 | ChrX | 30,590,201 (-15, +5) | 30,623,923 (-14, +5) | ||
| essv7859213 | Submitted genomic | NC_000023.9:g.(305 90186_30590206)_(3 0623909_30623928)d el | NCBI36 (hg18) | NC_000023.9 | ChrX | 30,590,201 (-15, +5) | 30,623,923 (-14, +5) | ||
| essv7859214 | Submitted genomic | NC_000023.9:g.(305 90186_30590206)_(3 0623909_30623928)d el | NCBI36 (hg18) | NC_000023.9 | ChrX | 30,590,201 (-15, +5) | 30,623,923 (-14, +5) | ||
| essv7859215 | Submitted genomic | NC_000023.9:g.(305 90186_30590206)_(3 0623909_30623928)d el | NCBI36 (hg18) | NC_000023.9 | ChrX | 30,590,201 (-15, +5) | 30,623,923 (-14, +5) | ||
| essv7859216 | Submitted genomic | NC_000023.9:g.(305 90186_30590206)_(3 0623909_30623928)d el | NCBI36 (hg18) | NC_000023.9 | ChrX | 30,590,201 (-15, +5) | 30,623,923 (-14, +5) | ||
| essv7859217 | Submitted genomic | NC_000023.9:g.(305 90186_30590206)_(3 0623909_30623928)d el | NCBI36 (hg18) | NC_000023.9 | ChrX | 30,590,201 (-15, +5) | 30,623,923 (-14, +5) | ||
| essv7859218 | Submitted genomic | NC_000023.9:g.(305 90186_30590206)_(3 0623909_30623928)d el | NCBI36 (hg18) | NC_000023.9 | ChrX | 30,590,201 (-15, +5) | 30,623,923 (-14, +5) | ||
| essv7859220 | Submitted genomic | NC_000023.9:g.(305 90186_30590206)_(3 0623909_30623928)d el | NCBI36 (hg18) | NC_000023.9 | ChrX | 30,590,201 (-15, +5) | 30,623,923 (-14, +5) | ||
| essv7859221 | Submitted genomic | NC_000023.9:g.(305 90186_30590206)_(3 0623909_30623928)d el | NCBI36 (hg18) | NC_000023.9 | ChrX | 30,590,201 (-15, +5) | 30,623,923 (-14, +5) |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv7859207 | 36 | SAMN00001544 | Digital array | Other | Fail |
| essv7859216 | 36 | SAMN00001577 | Digital array | Other | Fail |
| essv7859205 | 36 | SAMN00001581 | Digital array | Other | Fail |
| essv7859203 | 36 | SAMN00001595 | Digital array | Other | Fail |
| essv7859211 | 36 | SAMN00001601 | Digital array | Other | Fail |
| essv7859215 | 36 | SAMN00001610 | Digital array | Other | Fail |
| essv7859204 | 36 | SAMN00001613 | Digital array | Other | Fail |
| essv7859210 | 36 | SAMN00001617 | Digital array | Other | Fail |
| essv7859220 | 36 | SAMN00001629 | Digital array | Other | Fail |
| essv7859221 | 36 | SAMN00001638 | Digital array | Other | Fail |
| essv7859213 | 36 | SAMN00001663 | Digital array | Other | Fail |
| essv7859209 | 36 | SAMN00001665 | Digital array | Other | Fail |
| essv7859217 | 36 | SAMN00001668 | Digital array | Other | Fail |
| essv7859206 | 36 | SAMN00001694 | Digital array | Other | Fail |
| essv7859214 | 36 | SAMN00797154 | Digital array | Other | Fail |
| essv7859218 | 36 | SAMN00800947 | Digital array | Other | Fail |
| essv7859212 | 36 | SAMN00801684 | Digital array | Other | Fail |