esv3330777
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:6
- Validation:Fail
- Clinical Assertions: No
- Region Size:45,415
- 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: 231 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 231 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 74 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 |
---|---|---|---|---|---|---|---|---|---|
esv3330777 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 157,017,771 (-73, +127) | 157,063,185 (-120, +70) |
esv3330777 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 156,444,782 (-73, +127) | 156,490,196 (-120, +70) |
esv3330777 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 156,377,360 (-73, +127) | 156,422,774 (-120, +70) |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
essv7913213 | deletion | SAMN00001544 | Sequencing | Paired-end mapping | 15,303 |
essv7913214 | deletion | SAMN00001530 | Sequencing | Paired-end mapping | 9,564 |
essv7913215 | deletion | SAMN00001538 | Sequencing | Paired-end mapping | 26,254 |
essv7913216 | deletion | SAMN00801680 | Sequencing | Paired-end mapping | 19,937 |
essv7913217 | deletion | SAMN00801241 | Sequencing | Paired-end mapping | 14,163 |
essv7913218 | deletion | SAMN00001529 | Sequencing | Paired-end mapping | 15,109 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv7913213 | Remapped | Perfect | NC_000005.10:g.(15 7017698_157017898) _(157063065_157063 255)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 157,017,771 (-73, +127) | 157,063,185 (-120, +70) |
essv7913214 | Remapped | Perfect | NC_000005.10:g.(15 7017698_157017898) _(157063065_157063 255)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 157,017,771 (-73, +127) | 157,063,185 (-120, +70) |
essv7913215 | Remapped | Perfect | NC_000005.10:g.(15 7017698_157017898) _(157063065_157063 255)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 157,017,771 (-73, +127) | 157,063,185 (-120, +70) |
essv7913216 | Remapped | Perfect | NC_000005.10:g.(15 7017698_157017898) _(157063065_157063 255)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 157,017,771 (-73, +127) | 157,063,185 (-120, +70) |
essv7913217 | Remapped | Perfect | NC_000005.10:g.(15 7017698_157017898) _(157063065_157063 255)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 157,017,771 (-73, +127) | 157,063,185 (-120, +70) |
essv7913218 | Remapped | Perfect | NC_000005.10:g.(15 7017698_157017898) _(157063065_157063 255)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 157,017,771 (-73, +127) | 157,063,185 (-120, +70) |
essv7913213 | Remapped | Perfect | NC_000005.9:g.(156 444709_156444909)_ (156490076_1564902 66)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 156,444,782 (-73, +127) | 156,490,196 (-120, +70) |
essv7913214 | Remapped | Perfect | NC_000005.9:g.(156 444709_156444909)_ (156490076_1564902 66)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 156,444,782 (-73, +127) | 156,490,196 (-120, +70) |
essv7913215 | Remapped | Perfect | NC_000005.9:g.(156 444709_156444909)_ (156490076_1564902 66)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 156,444,782 (-73, +127) | 156,490,196 (-120, +70) |
essv7913216 | Remapped | Perfect | NC_000005.9:g.(156 444709_156444909)_ (156490076_1564902 66)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 156,444,782 (-73, +127) | 156,490,196 (-120, +70) |
essv7913217 | Remapped | Perfect | NC_000005.9:g.(156 444709_156444909)_ (156490076_1564902 66)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 156,444,782 (-73, +127) | 156,490,196 (-120, +70) |
essv7913218 | Remapped | Perfect | NC_000005.9:g.(156 444709_156444909)_ (156490076_1564902 66)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 156,444,782 (-73, +127) | 156,490,196 (-120, +70) |
essv7913213 | Submitted genomic | NC_000005.8:g.(156 377287_156377487)_ (156422654_1564228 44)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 156,377,360 (-73, +127) | 156,422,774 (-120, +70) | ||
essv7913214 | Submitted genomic | NC_000005.8:g.(156 377287_156377487)_ (156422654_1564228 44)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 156,377,360 (-73, +127) | 156,422,774 (-120, +70) | ||
essv7913215 | Submitted genomic | NC_000005.8:g.(156 377287_156377487)_ (156422654_1564228 44)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 156,377,360 (-73, +127) | 156,422,774 (-120, +70) | ||
essv7913216 | Submitted genomic | NC_000005.8:g.(156 377287_156377487)_ (156422654_1564228 44)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 156,377,360 (-73, +127) | 156,422,774 (-120, +70) | ||
essv7913217 | Submitted genomic | NC_000005.8:g.(156 377287_156377487)_ (156422654_1564228 44)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 156,377,360 (-73, +127) | 156,422,774 (-120, +70) | ||
essv7913218 | Submitted genomic | NC_000005.8:g.(156 377287_156377487)_ (156422654_1564228 44)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 156,377,360 (-73, +127) | 156,422,774 (-120, +70) |
Validation Information
Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
---|---|---|---|---|---|
essv7913218 | 36 | SAMN00001529 | Digital array | Other | Fail |
essv7913218 | 38 | SAMN00001529 | Digital array | Other | Fail |
essv7913214 | 36 | SAMN00001530 | Digital array | Other | Fail |
essv7913214 | 38 | SAMN00001530 | Digital array | Other | Fail |
essv7913215 | 36 | SAMN00001538 | Digital array | Other | Fail |
essv7913215 | 38 | SAMN00001538 | Digital array | Other | Fail |
essv7913213 | 36 | SAMN00001544 | Digital array | Other | Fail |
essv7913213 | 38 | SAMN00001544 | Digital array | Other | Fail |
essv7913217 | 36 | SAMN00801241 | Digital array | Other | Fail |
essv7913217 | 38 | SAMN00801241 | Digital array | Other | Fail |
essv7913216 | 36 | SAMN00801680 | Digital array | Other | Fail |
essv7913216 | 38 | SAMN00801680 | Digital array | Other | Fail |