esv3614619
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:16
- Validation:Not tested
- Clinical Assertions: No
- Region Size:21,357
- Publication(s):1000 Genomes Project Consortium et al. 2015
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: 233 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 233 SVs from 53 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3614619 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 112,301,710 (-20, +21) | 112,323,066 (-20, +21) |
| esv3614619 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 111,941,765 (-20, +21) | 111,963,121 (-20, +21) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv12929991 | deletion | SAMN00004664 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,739 |
| essv12929992 | deletion | SAMN00006347 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,456 |
| essv12929993 | deletion | SAMN00006390 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,374 |
| essv12929994 | deletion | SAMN00009108 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,494 |
| essv12929995 | deletion | SAMN00006534 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,800 |
| essv12929996 | deletion | SAMN00009168 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,745 |
| essv12929997 | deletion | SAMN00014318 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,631 |
| essv12929998 | deletion | SAMN01091122 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,238 |
| essv12929999 | deletion | SAMN00014357 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,211 |
| essv12930000 | deletion | SAMN00014410 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,513 |
| essv12930001 | deletion | SAMN00016854 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,755 |
| essv12930002 | deletion | SAMN01096706 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,606 |
| essv12930003 | deletion | SAMN01090987 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,785 |
| essv12930004 | deletion | SAMN01761598 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,831 |
| essv12930005 | deletion | SAMN01761455 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,258 |
| essv12930006 | deletion | SAMN00001253 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,906 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv12929991 | Remapped | Perfect | NC_000007.14:g.(11 2301690_112301731) _(112323046_112323 087)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 112,301,710 (-20, +21) | 112,323,066 (-20, +21) |
| essv12929992 | Remapped | Perfect | NC_000007.14:g.(11 2301690_112301731) _(112323046_112323 087)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 112,301,710 (-20, +21) | 112,323,066 (-20, +21) |
| essv12929993 | Remapped | Perfect | NC_000007.14:g.(11 2301690_112301731) _(112323046_112323 087)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 112,301,710 (-20, +21) | 112,323,066 (-20, +21) |
| essv12929994 | Remapped | Perfect | NC_000007.14:g.(11 2301690_112301731) _(112323046_112323 087)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 112,301,710 (-20, +21) | 112,323,066 (-20, +21) |
| essv12929995 | Remapped | Perfect | NC_000007.14:g.(11 2301690_112301731) _(112323046_112323 087)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 112,301,710 (-20, +21) | 112,323,066 (-20, +21) |
| essv12929996 | Remapped | Perfect | NC_000007.14:g.(11 2301690_112301731) _(112323046_112323 087)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 112,301,710 (-20, +21) | 112,323,066 (-20, +21) |
| essv12929997 | Remapped | Perfect | NC_000007.14:g.(11 2301690_112301731) _(112323046_112323 087)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 112,301,710 (-20, +21) | 112,323,066 (-20, +21) |
| essv12929998 | Remapped | Perfect | NC_000007.14:g.(11 2301690_112301731) _(112323046_112323 087)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 112,301,710 (-20, +21) | 112,323,066 (-20, +21) |
| essv12929999 | Remapped | Perfect | NC_000007.14:g.(11 2301690_112301731) _(112323046_112323 087)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 112,301,710 (-20, +21) | 112,323,066 (-20, +21) |
| essv12930000 | Remapped | Perfect | NC_000007.14:g.(11 2301690_112301731) _(112323046_112323 087)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 112,301,710 (-20, +21) | 112,323,066 (-20, +21) |
| essv12930001 | Remapped | Perfect | NC_000007.14:g.(11 2301690_112301731) _(112323046_112323 087)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 112,301,710 (-20, +21) | 112,323,066 (-20, +21) |
| essv12930002 | Remapped | Perfect | NC_000007.14:g.(11 2301690_112301731) _(112323046_112323 087)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 112,301,710 (-20, +21) | 112,323,066 (-20, +21) |
| essv12930003 | Remapped | Perfect | NC_000007.14:g.(11 2301690_112301731) _(112323046_112323 087)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 112,301,710 (-20, +21) | 112,323,066 (-20, +21) |
| essv12930004 | Remapped | Perfect | NC_000007.14:g.(11 2301690_112301731) _(112323046_112323 087)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 112,301,710 (-20, +21) | 112,323,066 (-20, +21) |
| essv12930005 | Remapped | Perfect | NC_000007.14:g.(11 2301690_112301731) _(112323046_112323 087)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 112,301,710 (-20, +21) | 112,323,066 (-20, +21) |
| essv12930006 | Remapped | Perfect | NC_000007.14:g.(11 2301690_112301731) _(112323046_112323 087)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 112,301,710 (-20, +21) | 112,323,066 (-20, +21) |
| essv12929991 | Submitted genomic | NC_000007.13:g.(11 1941745_111941786) _(111963101_111963 142)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 111,941,765 (-20, +21) | 111,963,121 (-20, +21) | ||
| essv12929992 | Submitted genomic | NC_000007.13:g.(11 1941745_111941786) _(111963101_111963 142)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 111,941,765 (-20, +21) | 111,963,121 (-20, +21) | ||
| essv12929993 | Submitted genomic | NC_000007.13:g.(11 1941745_111941786) _(111963101_111963 142)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 111,941,765 (-20, +21) | 111,963,121 (-20, +21) | ||
| essv12929994 | Submitted genomic | NC_000007.13:g.(11 1941745_111941786) _(111963101_111963 142)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 111,941,765 (-20, +21) | 111,963,121 (-20, +21) | ||
| essv12929995 | Submitted genomic | NC_000007.13:g.(11 1941745_111941786) _(111963101_111963 142)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 111,941,765 (-20, +21) | 111,963,121 (-20, +21) | ||
| essv12929996 | Submitted genomic | NC_000007.13:g.(11 1941745_111941786) _(111963101_111963 142)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 111,941,765 (-20, +21) | 111,963,121 (-20, +21) | ||
| essv12929997 | Submitted genomic | NC_000007.13:g.(11 1941745_111941786) _(111963101_111963 142)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 111,941,765 (-20, +21) | 111,963,121 (-20, +21) | ||
| essv12929998 | Submitted genomic | NC_000007.13:g.(11 1941745_111941786) _(111963101_111963 142)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 111,941,765 (-20, +21) | 111,963,121 (-20, +21) | ||
| essv12929999 | Submitted genomic | NC_000007.13:g.(11 1941745_111941786) _(111963101_111963 142)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 111,941,765 (-20, +21) | 111,963,121 (-20, +21) | ||
| essv12930000 | Submitted genomic | NC_000007.13:g.(11 1941745_111941786) _(111963101_111963 142)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 111,941,765 (-20, +21) | 111,963,121 (-20, +21) | ||
| essv12930001 | Submitted genomic | NC_000007.13:g.(11 1941745_111941786) _(111963101_111963 142)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 111,941,765 (-20, +21) | 111,963,121 (-20, +21) | ||
| essv12930002 | Submitted genomic | NC_000007.13:g.(11 1941745_111941786) _(111963101_111963 142)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 111,941,765 (-20, +21) | 111,963,121 (-20, +21) | ||
| essv12930003 | Submitted genomic | NC_000007.13:g.(11 1941745_111941786) _(111963101_111963 142)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 111,941,765 (-20, +21) | 111,963,121 (-20, +21) | ||
| essv12930004 | Submitted genomic | NC_000007.13:g.(11 1941745_111941786) _(111963101_111963 142)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 111,941,765 (-20, +21) | 111,963,121 (-20, +21) | ||
| essv12930005 | Submitted genomic | NC_000007.13:g.(11 1941745_111941786) _(111963101_111963 142)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 111,941,765 (-20, +21) | 111,963,121 (-20, +21) | ||
| essv12930006 | Submitted genomic | NC_000007.13:g.(11 1941745_111941786) _(111963101_111963 142)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 111,941,765 (-20, +21) | 111,963,121 (-20, +21) |