esv3468255
- 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:Yes
- Clinical Assertions: No
- Region Size:39,905
- 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: 242 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 242 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 95 SVs from 19 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3468255 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 77,316,467 (-136, +74) | 77,356,371 (-113, +107) |
| esv3468255 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 78,237,620 (-136, +74) | 78,277,524 (-113, +107) |
| esv3468255 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 78,456,644 (-136, +74) | 78,496,548 (-113, +107) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv8079400 | deletion | SAMN00001630 | Sequencing | Paired-end mapping | 10,735 |
| essv8079401 | deletion | SAMN00001696 | Sequencing | Paired-end mapping | 44,056 |
| essv8079402 | deletion | SAMN00001634 | Sequencing | Paired-end mapping | 14,025 |
| essv8079403 | deletion | SAMN00001665 | Sequencing | Paired-end mapping | 11,494 |
| essv8079404 | deletion | SAMN00001597 | Sequencing | Paired-end mapping | 14,192 |
| essv8079405 | deletion | SAMN00001618 | Sequencing | Paired-end mapping | 9,893 |
| essv8079406 | deletion | SAMN00001635 | Sequencing | Paired-end mapping | 14,152 |
| essv8079407 | deletion | SAMN00001607 | Sequencing | Paired-end mapping | 9,760 |
| essv8079408 | deletion | SAMN00801684 | Sequencing | Paired-end mapping | 16,980 |
| essv8079410 | deletion | SAMN00001580 | Sequencing | Paired-end mapping | 12,837 |
| essv8079411 | deletion | SAMN00001604 | Sequencing | Paired-end mapping | 13,004 |
| essv8079412 | deletion | SAMN00001667 | Sequencing | Paired-end mapping | 12,201 |
| essv8079413 | deletion | SAMN00001636 | Sequencing | Paired-end mapping | 14,366 |
| essv8079414 | deletion | SAMN00001632 | Sequencing | Paired-end mapping | 10,836 |
| essv8079415 | deletion | SAMN00001649 | Sequencing | Paired-end mapping | 13,082 |
| essv8079416 | deletion | SAMN00801680 | Sequencing | Paired-end mapping | 19,937 |
| essv8079417 | deletion | SAMN00001605 | Sequencing | Paired-end mapping | 14,569 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv8079400 | Remapped | Perfect | NC_000004.12:g.(77 316331_77316541)_( 77356258_77356478) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 77,316,467 (-136, +74) | 77,356,371 (-113, +107) |
| essv8079401 | Remapped | Perfect | NC_000004.12:g.(77 316331_77316541)_( 77356258_77356478) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 77,316,467 (-136, +74) | 77,356,371 (-113, +107) |
| essv8079402 | Remapped | Perfect | NC_000004.12:g.(77 316331_77316541)_( 77356258_77356478) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 77,316,467 (-136, +74) | 77,356,371 (-113, +107) |
| essv8079403 | Remapped | Perfect | NC_000004.12:g.(77 316331_77316541)_( 77356258_77356478) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 77,316,467 (-136, +74) | 77,356,371 (-113, +107) |
| essv8079404 | Remapped | Perfect | NC_000004.12:g.(77 316331_77316541)_( 77356258_77356478) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 77,316,467 (-136, +74) | 77,356,371 (-113, +107) |
| essv8079405 | Remapped | Perfect | NC_000004.12:g.(77 316331_77316541)_( 77356258_77356478) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 77,316,467 (-136, +74) | 77,356,371 (-113, +107) |
| essv8079406 | Remapped | Perfect | NC_000004.12:g.(77 316331_77316541)_( 77356258_77356478) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 77,316,467 (-136, +74) | 77,356,371 (-113, +107) |
| essv8079407 | Remapped | Perfect | NC_000004.12:g.(77 316331_77316541)_( 77356258_77356478) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 77,316,467 (-136, +74) | 77,356,371 (-113, +107) |
| essv8079408 | Remapped | Perfect | NC_000004.12:g.(77 316331_77316541)_( 77356258_77356478) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 77,316,467 (-136, +74) | 77,356,371 (-113, +107) |
| essv8079410 | Remapped | Perfect | NC_000004.12:g.(77 316331_77316541)_( 77356258_77356478) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 77,316,467 (-136, +74) | 77,356,371 (-113, +107) |
| essv8079411 | Remapped | Perfect | NC_000004.12:g.(77 316331_77316541)_( 77356258_77356478) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 77,316,467 (-136, +74) | 77,356,371 (-113, +107) |
| essv8079412 | Remapped | Perfect | NC_000004.12:g.(77 316331_77316541)_( 77356258_77356478) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 77,316,467 (-136, +74) | 77,356,371 (-113, +107) |
| essv8079413 | Remapped | Perfect | NC_000004.12:g.(77 316331_77316541)_( 77356258_77356478) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 77,316,467 (-136, +74) | 77,356,371 (-113, +107) |
| essv8079414 | Remapped | Perfect | NC_000004.12:g.(77 316331_77316541)_( 77356258_77356478) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 77,316,467 (-136, +74) | 77,356,371 (-113, +107) |
| essv8079415 | Remapped | Perfect | NC_000004.12:g.(77 316331_77316541)_( 77356258_77356478) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 77,316,467 (-136, +74) | 77,356,371 (-113, +107) |
| essv8079416 | Remapped | Perfect | NC_000004.12:g.(77 316331_77316541)_( 77356258_77356478) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 77,316,467 (-136, +74) | 77,356,371 (-113, +107) |
| essv8079417 | Remapped | Perfect | NC_000004.12:g.(77 316331_77316541)_( 77356258_77356478) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 77,316,467 (-136, +74) | 77,356,371 (-113, +107) |
| essv8079400 | Remapped | Perfect | NC_000004.11:g.(78 237484_78237694)_( 78277411_78277631) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 78,237,620 (-136, +74) | 78,277,524 (-113, +107) |
| essv8079401 | Remapped | Perfect | NC_000004.11:g.(78 237484_78237694)_( 78277411_78277631) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 78,237,620 (-136, +74) | 78,277,524 (-113, +107) |
| essv8079402 | Remapped | Perfect | NC_000004.11:g.(78 237484_78237694)_( 78277411_78277631) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 78,237,620 (-136, +74) | 78,277,524 (-113, +107) |
| essv8079403 | Remapped | Perfect | NC_000004.11:g.(78 237484_78237694)_( 78277411_78277631) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 78,237,620 (-136, +74) | 78,277,524 (-113, +107) |
| essv8079404 | Remapped | Perfect | NC_000004.11:g.(78 237484_78237694)_( 78277411_78277631) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 78,237,620 (-136, +74) | 78,277,524 (-113, +107) |
| essv8079405 | Remapped | Perfect | NC_000004.11:g.(78 237484_78237694)_( 78277411_78277631) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 78,237,620 (-136, +74) | 78,277,524 (-113, +107) |
| essv8079406 | Remapped | Perfect | NC_000004.11:g.(78 237484_78237694)_( 78277411_78277631) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 78,237,620 (-136, +74) | 78,277,524 (-113, +107) |
| essv8079407 | Remapped | Perfect | NC_000004.11:g.(78 237484_78237694)_( 78277411_78277631) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 78,237,620 (-136, +74) | 78,277,524 (-113, +107) |
| essv8079408 | Remapped | Perfect | NC_000004.11:g.(78 237484_78237694)_( 78277411_78277631) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 78,237,620 (-136, +74) | 78,277,524 (-113, +107) |
| essv8079410 | Remapped | Perfect | NC_000004.11:g.(78 237484_78237694)_( 78277411_78277631) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 78,237,620 (-136, +74) | 78,277,524 (-113, +107) |
| essv8079411 | Remapped | Perfect | NC_000004.11:g.(78 237484_78237694)_( 78277411_78277631) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 78,237,620 (-136, +74) | 78,277,524 (-113, +107) |
| essv8079412 | Remapped | Perfect | NC_000004.11:g.(78 237484_78237694)_( 78277411_78277631) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 78,237,620 (-136, +74) | 78,277,524 (-113, +107) |
| essv8079413 | Remapped | Perfect | NC_000004.11:g.(78 237484_78237694)_( 78277411_78277631) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 78,237,620 (-136, +74) | 78,277,524 (-113, +107) |
| essv8079414 | Remapped | Perfect | NC_000004.11:g.(78 237484_78237694)_( 78277411_78277631) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 78,237,620 (-136, +74) | 78,277,524 (-113, +107) |
| essv8079415 | Remapped | Perfect | NC_000004.11:g.(78 237484_78237694)_( 78277411_78277631) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 78,237,620 (-136, +74) | 78,277,524 (-113, +107) |
| essv8079416 | Remapped | Perfect | NC_000004.11:g.(78 237484_78237694)_( 78277411_78277631) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 78,237,620 (-136, +74) | 78,277,524 (-113, +107) |
| essv8079417 | Remapped | Perfect | NC_000004.11:g.(78 237484_78237694)_( 78277411_78277631) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 78,237,620 (-136, +74) | 78,277,524 (-113, +107) |
| essv8079400 | Submitted genomic | NC_000004.10:g.(78 456508_78456718)_( 78496435_78496655) del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 78,456,644 (-136, +74) | 78,496,548 (-113, +107) | ||
| essv8079401 | Submitted genomic | NC_000004.10:g.(78 456508_78456718)_( 78496435_78496655) del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 78,456,644 (-136, +74) | 78,496,548 (-113, +107) | ||
| essv8079402 | Submitted genomic | NC_000004.10:g.(78 456508_78456718)_( 78496435_78496655) del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 78,456,644 (-136, +74) | 78,496,548 (-113, +107) | ||
| essv8079403 | Submitted genomic | NC_000004.10:g.(78 456508_78456718)_( 78496435_78496655) del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 78,456,644 (-136, +74) | 78,496,548 (-113, +107) | ||
| essv8079404 | Submitted genomic | NC_000004.10:g.(78 456508_78456718)_( 78496435_78496655) del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 78,456,644 (-136, +74) | 78,496,548 (-113, +107) | ||
| essv8079405 | Submitted genomic | NC_000004.10:g.(78 456508_78456718)_( 78496435_78496655) del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 78,456,644 (-136, +74) | 78,496,548 (-113, +107) | ||
| essv8079406 | Submitted genomic | NC_000004.10:g.(78 456508_78456718)_( 78496435_78496655) del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 78,456,644 (-136, +74) | 78,496,548 (-113, +107) | ||
| essv8079407 | Submitted genomic | NC_000004.10:g.(78 456508_78456718)_( 78496435_78496655) del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 78,456,644 (-136, +74) | 78,496,548 (-113, +107) | ||
| essv8079408 | Submitted genomic | NC_000004.10:g.(78 456508_78456718)_( 78496435_78496655) del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 78,456,644 (-136, +74) | 78,496,548 (-113, +107) | ||
| essv8079410 | Submitted genomic | NC_000004.10:g.(78 456508_78456718)_( 78496435_78496655) del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 78,456,644 (-136, +74) | 78,496,548 (-113, +107) | ||
| essv8079411 | Submitted genomic | NC_000004.10:g.(78 456508_78456718)_( 78496435_78496655) del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 78,456,644 (-136, +74) | 78,496,548 (-113, +107) | ||
| essv8079412 | Submitted genomic | NC_000004.10:g.(78 456508_78456718)_( 78496435_78496655) del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 78,456,644 (-136, +74) | 78,496,548 (-113, +107) | ||
| essv8079413 | Submitted genomic | NC_000004.10:g.(78 456508_78456718)_( 78496435_78496655) del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 78,456,644 (-136, +74) | 78,496,548 (-113, +107) | ||
| essv8079414 | Submitted genomic | NC_000004.10:g.(78 456508_78456718)_( 78496435_78496655) del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 78,456,644 (-136, +74) | 78,496,548 (-113, +107) | ||
| essv8079415 | Submitted genomic | NC_000004.10:g.(78 456508_78456718)_( 78496435_78496655) del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 78,456,644 (-136, +74) | 78,496,548 (-113, +107) | ||
| essv8079416 | Submitted genomic | NC_000004.10:g.(78 456508_78456718)_( 78496435_78496655) del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 78,456,644 (-136, +74) | 78,496,548 (-113, +107) | ||
| essv8079417 | Submitted genomic | NC_000004.10:g.(78 456508_78456718)_( 78496435_78496655) del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 78,456,644 (-136, +74) | 78,496,548 (-113, +107) |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv8079410 | 36 | SAMN00001580 | Digital array | Other | Fail |
| essv8079410 | 38 | SAMN00001580 | Digital array | Other | Fail |
| essv8079404 | 36 | SAMN00001597 | Digital array | Other | Fail |
| essv8079404 | 38 | SAMN00001597 | Digital array | Other | Fail |
| essv8079411 | 36 | SAMN00001604 | Digital array | Other | Fail |
| essv8079411 | 38 | SAMN00001604 | Digital array | Other | Fail |
| essv8079417 | 36 | SAMN00001605 | Digital array | Other | Fail |
| essv8079417 | 38 | SAMN00001605 | Digital array | Other | Fail |
| essv8079407 | 36 | SAMN00001607 | Digital array | Other | Fail |
| essv8079407 | 38 | SAMN00001607 | Digital array | Other | Fail |
| essv8079405 | 36 | SAMN00001618 | Digital array | Other | Fail |
| essv8079405 | 38 | SAMN00001618 | Digital array | Other | Fail |
| essv8079400 | 36 | SAMN00001630 | Digital array | Other | Fail |
| essv8079400 | 38 | SAMN00001630 | Digital array | Other | Fail |
| essv8079414 | 36 | SAMN00001632 | Digital array | Other | Fail |
| essv8079414 | 38 | SAMN00001632 | Digital array | Other | Fail |
| essv8079402 | 36 | SAMN00001634 | Digital array | Other | Fail |
| essv8079402 | 38 | SAMN00001634 | Digital array | Other | Fail |
| essv8079406 | 36 | SAMN00001635 | Digital array | Other | Fail |
| essv8079406 | 38 | SAMN00001635 | Digital array | Other | Fail |
| essv8079413 | 36 | SAMN00001636 | Digital array | Other | Fail |
| essv8079413 | 38 | SAMN00001636 | Digital array | Other | Fail |
| essv8079415 | 36 | SAMN00001649 | Digital array | Other | Fail |
| essv8079415 | 38 | SAMN00001649 | Digital array | Other | Fail |
| essv8079403 | 36 | SAMN00001665 | Digital array | Other | Fail |
| essv8079403 | 38 | SAMN00001665 | Digital array | Other | Fail |
| essv8079412 | 36 | SAMN00001667 | Digital array | Other | Fail |
| essv8079412 | 38 | SAMN00001667 | Digital array | Other | Fail |
| essv8079401 | 36 | SAMN00001696 | Digital array | Other | Fail |
| essv8079401 | 38 | SAMN00001696 | Digital array | Other | Fail |
| essv8079416 | 36 | SAMN00801680 | Digital array | Other | Fail |
| essv8079416 | 38 | SAMN00801680 | Digital array | Other | Fail |
| essv8079408 | 36 | SAMN00801684 | Digital array | Other | Fail |
| essv8079408 | 38 | SAMN00801684 | Digital array | Other | Fail |
| essv8079410 | 37 | SAMN00001580 | Sequencing | de novo sequence assembly | Pass |
| essv8079404 | 37 | SAMN00001597 | Sequencing | de novo sequence assembly | Pass |
| essv8079411 | 37 | SAMN00001604 | Sequencing | de novo sequence assembly | Pass |
| essv8079417 | 37 | SAMN00001605 | Sequencing | de novo sequence assembly | Pass |
| essv8079407 | 37 | SAMN00001607 | Sequencing | de novo sequence assembly | Pass |
| essv8079405 | 37 | SAMN00001618 | Sequencing | de novo sequence assembly | Pass |
| essv8079400 | 37 | SAMN00001630 | Sequencing | de novo sequence assembly | Pass |
| essv8079414 | 37 | SAMN00001632 | Sequencing | de novo sequence assembly | Pass |
| essv8079402 | 37 | SAMN00001634 | Sequencing | de novo sequence assembly | Pass |
| essv8079406 | 37 | SAMN00001635 | Sequencing | de novo sequence assembly | Pass |
| essv8079413 | 37 | SAMN00001636 | Sequencing | de novo sequence assembly | Pass |
| essv8079415 | 37 | SAMN00001649 | Sequencing | de novo sequence assembly | Pass |
| essv8079403 | 37 | SAMN00001665 | Sequencing | de novo sequence assembly | Pass |
| essv8079412 | 37 | SAMN00001667 | Sequencing | de novo sequence assembly | Pass |
| essv8079401 | 37 | SAMN00001696 | Sequencing | de novo sequence assembly | Pass |
| essv8079416 | 37 | SAMN00801680 | Sequencing | de novo sequence assembly | Pass |
| essv8079408 | 37 | SAMN00801684 | Sequencing | de novo sequence assembly | Pass |