esv3511707
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:7
- Validation:Yes
- Clinical Assertions: No
- Region Size:12,991
- 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: 382 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 382 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 220 SVs from 20 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3511707 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 63,650,483 (-97, +89) | 63,663,473 (-109, +91) |
| esv3511707 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000013.10 | Chr13 | 64,224,616 (-97, +89) | 64,237,606 (-109, +91) |
| esv3511707 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000013.9 | Chr13 | 63,122,617 (-97, +89) | 63,135,607 (-109, +91) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv9215957 | deletion | SAMN00801684 | Sequencing | Paired-end mapping | 16,980 |
| essv9215959 | deletion | SAMN00797126 | Sequencing | Paired-end mapping | 11,843 |
| essv9215960 | deletion | SAMN00801708 | Sequencing | Paired-end mapping | 16,085 |
| essv9215961 | deletion | SAMN00801646 | Sequencing | Paired-end mapping | 11,757 |
| essv9215962 | deletion | SAMN00801049 | Sequencing | Paired-end mapping | 10,931 |
| essv9215963 | deletion | SAMN00797054 | Sequencing | Paired-end mapping | 11,153 |
| essv9215964 | deletion | SAMN00001534 | Sequencing | Paired-end mapping | 9,499 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv9215957 | Remapped | Perfect | NC_000013.11:g.(63 650386_63650572)_( 63663364_63663564) del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 63,650,483 (-97, +89) | 63,663,473 (-109, +91) |
| essv9215959 | Remapped | Perfect | NC_000013.11:g.(63 650386_63650572)_( 63663364_63663564) del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 63,650,483 (-97, +89) | 63,663,473 (-109, +91) |
| essv9215960 | Remapped | Perfect | NC_000013.11:g.(63 650386_63650572)_( 63663364_63663564) del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 63,650,483 (-97, +89) | 63,663,473 (-109, +91) |
| essv9215961 | Remapped | Perfect | NC_000013.11:g.(63 650386_63650572)_( 63663364_63663564) del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 63,650,483 (-97, +89) | 63,663,473 (-109, +91) |
| essv9215962 | Remapped | Perfect | NC_000013.11:g.(63 650386_63650572)_( 63663364_63663564) del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 63,650,483 (-97, +89) | 63,663,473 (-109, +91) |
| essv9215963 | Remapped | Perfect | NC_000013.11:g.(63 650386_63650572)_( 63663364_63663564) del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 63,650,483 (-97, +89) | 63,663,473 (-109, +91) |
| essv9215964 | Remapped | Perfect | NC_000013.11:g.(63 650386_63650572)_( 63663364_63663564) del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 63,650,483 (-97, +89) | 63,663,473 (-109, +91) |
| essv9215957 | Remapped | Perfect | NC_000013.10:g.(64 224519_64224705)_( 64237497_64237697) del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 64,224,616 (-97, +89) | 64,237,606 (-109, +91) |
| essv9215959 | Remapped | Perfect | NC_000013.10:g.(64 224519_64224705)_( 64237497_64237697) del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 64,224,616 (-97, +89) | 64,237,606 (-109, +91) |
| essv9215960 | Remapped | Perfect | NC_000013.10:g.(64 224519_64224705)_( 64237497_64237697) del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 64,224,616 (-97, +89) | 64,237,606 (-109, +91) |
| essv9215961 | Remapped | Perfect | NC_000013.10:g.(64 224519_64224705)_( 64237497_64237697) del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 64,224,616 (-97, +89) | 64,237,606 (-109, +91) |
| essv9215962 | Remapped | Perfect | NC_000013.10:g.(64 224519_64224705)_( 64237497_64237697) del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 64,224,616 (-97, +89) | 64,237,606 (-109, +91) |
| essv9215963 | Remapped | Perfect | NC_000013.10:g.(64 224519_64224705)_( 64237497_64237697) del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 64,224,616 (-97, +89) | 64,237,606 (-109, +91) |
| essv9215964 | Remapped | Perfect | NC_000013.10:g.(64 224519_64224705)_( 64237497_64237697) del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 64,224,616 (-97, +89) | 64,237,606 (-109, +91) |
| essv9215957 | Submitted genomic | NC_000013.9:g.(631 22520_63122706)_(6 3135498_63135698)d el | NCBI36 (hg18) | NC_000013.9 | Chr13 | 63,122,617 (-97, +89) | 63,135,607 (-109, +91) | ||
| essv9215959 | Submitted genomic | NC_000013.9:g.(631 22520_63122706)_(6 3135498_63135698)d el | NCBI36 (hg18) | NC_000013.9 | Chr13 | 63,122,617 (-97, +89) | 63,135,607 (-109, +91) | ||
| essv9215960 | Submitted genomic | NC_000013.9:g.(631 22520_63122706)_(6 3135498_63135698)d el | NCBI36 (hg18) | NC_000013.9 | Chr13 | 63,122,617 (-97, +89) | 63,135,607 (-109, +91) | ||
| essv9215961 | Submitted genomic | NC_000013.9:g.(631 22520_63122706)_(6 3135498_63135698)d el | NCBI36 (hg18) | NC_000013.9 | Chr13 | 63,122,617 (-97, +89) | 63,135,607 (-109, +91) | ||
| essv9215962 | Submitted genomic | NC_000013.9:g.(631 22520_63122706)_(6 3135498_63135698)d el | NCBI36 (hg18) | NC_000013.9 | Chr13 | 63,122,617 (-97, +89) | 63,135,607 (-109, +91) | ||
| essv9215963 | Submitted genomic | NC_000013.9:g.(631 22520_63122706)_(6 3135498_63135698)d el | NCBI36 (hg18) | NC_000013.9 | Chr13 | 63,122,617 (-97, +89) | 63,135,607 (-109, +91) | ||
| essv9215964 | Submitted genomic | NC_000013.9:g.(631 22520_63122706)_(6 3135498_63135698)d el | NCBI36 (hg18) | NC_000013.9 | Chr13 | 63,122,617 (-97, +89) | 63,135,607 (-109, +91) |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv9215964 | 36 | SAMN00001534 | Digital array | Other | Pass |
| essv9215964 | 38 | SAMN00001534 | Digital array | Other | Pass |
| essv9215963 | 36 | SAMN00797054 | Digital array | Other | Pass |
| essv9215963 | 38 | SAMN00797054 | Digital array | Other | Pass |
| essv9215959 | 36 | SAMN00797126 | Digital array | Other | Pass |
| essv9215959 | 38 | SAMN00797126 | Digital array | Other | Pass |
| essv9215962 | 36 | SAMN00801049 | Digital array | Other | Pass |
| essv9215962 | 38 | SAMN00801049 | Digital array | Other | Pass |
| essv9215961 | 36 | SAMN00801646 | Digital array | Other | Pass |
| essv9215961 | 38 | SAMN00801646 | Digital array | Other | Pass |
| essv9215957 | 36 | SAMN00801684 | Digital array | Other | Pass |
| essv9215957 | 38 | SAMN00801684 | Digital array | Other | Pass |
| essv9215960 | 36 | SAMN00801708 | Digital array | Other | Pass |
| essv9215960 | 38 | SAMN00801708 | Digital array | Other | Pass |