esv2737658
- Organism: Homo sapiens
- Study:estd201 (Wong et al. 2013)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:37
- Validation:Not tested
- Clinical Assertions: No
- Region Size:181,810
- Publication(s):Wong et al. 2013
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: 1372 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 1372 SVs from 94 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2737658 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 136,668,231 | 136,850,040 |
| esv2737658 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 137,680,474 | 137,862,283 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv6707832 | deletion | SSM006 | Sequencing | Paired-end mapping | 2,080 |
| essv6856310 | deletion | SSM087 | Sequencing | Paired-end mapping | 5,379 |
| essv6838088 | deletion | SSM083 | Sequencing | Paired-end mapping | 3,414 |
| essv6966874 | deletion | SSM004 | Sequencing | Paired-end mapping | 2,859 |
| essv6823078 | deletion | SSM079 | Sequencing | Paired-end mapping | 3,423 |
| essv6958265 | deletion | SSM026 | Sequencing | Paired-end mapping | 6,124 |
| essv6915653 | deletion | SSM016 | Sequencing | Paired-end mapping | 3,081 |
| essv6691119 | deletion | SSM036 | Sequencing | Paired-end mapping | 3,136 |
| essv6799616 | deletion | SSM072 | Sequencing | Paired-end mapping | 3,775 |
| essv6890808 | deletion | SSM097 | Sequencing | Paired-end mapping | 2,968 |
| essv6879101 | deletion | SSM093 | Sequencing | Paired-end mapping | 2,479 |
| essv6861707 | deletion | SSM088 | Sequencing | Paired-end mapping | 4,275 |
| essv6894152 | deletion | SSM098 | Sequencing | Paired-end mapping | 3,190 |
| essv6805964 | deletion | SSM074 | Sequencing | Paired-end mapping | 2,676 |
| essv6881939 | deletion | SSM094 | Sequencing | Paired-end mapping | 2,544 |
| essv6897240 | deletion | SSM099 | Sequencing | Paired-end mapping | 2,492 |
| essv6811829 | deletion | SSM076 | Sequencing | Paired-end mapping | 2,535 |
| essv6905029 | deletion | SSM002 | Sequencing | Paired-end mapping | 2,248 |
| essv6827130 | deletion | SSM080 | Sequencing | Paired-end mapping | 3,623 |
| essv6795435 | deletion | SSM071 | Sequencing | Paired-end mapping | 3,743 |
| essv6778895 | deletion | SSM067 | Sequencing | Paired-end mapping | 3,533 |
| essv6861276 | deletion | SSM011 | Sequencing | Paired-end mapping | 2,960 |
| essv6677261 | deletion | SSM032 | Sequencing | Paired-end mapping | 3,551 |
| essv6870330 | deletion | SSM090 | Sequencing | Paired-end mapping | 2,691 |
| essv6964856 | deletion | SSM027 | Sequencing | Paired-end mapping | 5,772 |
| essv6727790 | deletion | SSM046 | Sequencing | Paired-end mapping | 3,393 |
| essv6900224 | deletion | SSM100 | Sequencing | Paired-end mapping | 2,689 |
| essv6850292 | deletion | SSM086 | Sequencing | Paired-end mapping | 5,602 |
| essv6701846 | deletion | SSM039 | Sequencing | Paired-end mapping | 3,825 |
| essv6866431 | deletion | SSM089 | Sequencing | Paired-end mapping | 4,329 |
| essv6819029 | deletion | SSM078 | Sequencing | Paired-end mapping | 4,128 |
| essv6931222 | deletion | SSM020 | Sequencing | Paired-end mapping | 3,809 |
| essv6672215 | deletion | SSM031 | Sequencing | Paired-end mapping | 5,663 |
| essv6908315 | deletion | SSM014 | Sequencing | Paired-end mapping | 3,528 |
| essv6976096 | deletion | SSM029 | Sequencing | Paired-end mapping | 6,569 |
| essv6841906 | deletion | SSM084 | Sequencing | Paired-end mapping | 3,545 |
| essv6931223 | deletion | SSM020 | Sequencing | Paired-end mapping | 3,809 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv6707832 | Remapped | Perfect | NC_000008.11:g.(13 6668231_?)_(?_1368 50040)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,668,231 | 136,850,040 |
| essv6856310 | Remapped | Perfect | NC_000008.11:g.(13 6704553_?)_(?_1367 04885)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,704,553 | 136,704,885 |
| essv6838088 | Remapped | Perfect | NC_000008.11:g.(13 6704570_?)_(?_1367 04879)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,704,570 | 136,704,879 |
| essv6966874 | Remapped | Perfect | NC_000008.11:g.(13 6704570_?)_(?_1367 04883)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,704,570 | 136,704,883 |
| essv6823078 | Remapped | Perfect | NC_000008.11:g.(13 6704571_?)_(?_1367 04848)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,704,571 | 136,704,848 |
| essv6958265 | Remapped | Perfect | NC_000008.11:g.(13 6704572_?)_(?_1367 04880)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,704,572 | 136,704,880 |
| essv6915653 | Remapped | Perfect | NC_000008.11:g.(13 6704575_?)_(?_1367 04884)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,704,575 | 136,704,884 |
| essv6691119 | Remapped | Perfect | NC_000008.11:g.(13 6704577_?)_(?_1367 04883)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,704,577 | 136,704,883 |
| essv6799616 | Remapped | Perfect | NC_000008.11:g.(13 6704577_?)_(?_1367 04885)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,704,577 | 136,704,885 |
| essv6890808 | Remapped | Perfect | NC_000008.11:g.(13 6704578_?)_(?_1367 04894)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,704,578 | 136,704,894 |
| essv6879101 | Remapped | Perfect | NC_000008.11:g.(13 6704579_?)_(?_1367 04889)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,704,579 | 136,704,889 |
| essv6861707 | Remapped | Perfect | NC_000008.11:g.(13 6704582_?)_(?_1367 04886)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,704,582 | 136,704,886 |
| essv6894152 | Remapped | Perfect | NC_000008.11:g.(13 6704582_?)_(?_1367 04903)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,704,582 | 136,704,903 |
| essv6805964 | Remapped | Perfect | NC_000008.11:g.(13 6704583_?)_(?_1367 04898)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,704,583 | 136,704,898 |
| essv6881939 | Remapped | Perfect | NC_000008.11:g.(13 6704585_?)_(?_1367 04898)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,704,585 | 136,704,898 |
| essv6897240 | Remapped | Perfect | NC_000008.11:g.(13 6704585_?)_(?_1367 04944)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,704,585 | 136,704,944 |
| essv6811829 | Remapped | Perfect | NC_000008.11:g.(13 6704586_?)_(?_1367 04883)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,704,586 | 136,704,883 |
| essv6905029 | Remapped | Perfect | NC_000008.11:g.(13 6704586_?)_(?_1367 04912)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,704,586 | 136,704,912 |
| essv6827130 | Remapped | Perfect | NC_000008.11:g.(13 6704588_?)_(?_1367 04886)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,704,588 | 136,704,886 |
| essv6795435 | Remapped | Perfect | NC_000008.11:g.(13 6704588_?)_(?_1367 04887)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,704,588 | 136,704,887 |
| essv6778895 | Remapped | Perfect | NC_000008.11:g.(13 6704588_?)_(?_1367 04888)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,704,588 | 136,704,888 |
| essv6861276 | Remapped | Perfect | NC_000008.11:g.(13 6704588_?)_(?_1367 04890)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,704,588 | 136,704,890 |
| essv6677261 | Remapped | Perfect | NC_000008.11:g.(13 6704588_?)_(?_1367 04915)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,704,588 | 136,704,915 |
| essv6870330 | Remapped | Perfect | NC_000008.11:g.(13 6704589_?)_(?_1367 04881)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,704,589 | 136,704,881 |
| essv6964856 | Remapped | Perfect | NC_000008.11:g.(13 6704590_?)_(?_1367 04882)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,704,590 | 136,704,882 |
| essv6727790 | Remapped | Perfect | NC_000008.11:g.(13 6704590_?)_(?_1367 04883)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,704,590 | 136,704,883 |
| essv6900224 | Remapped | Perfect | NC_000008.11:g.(13 6704590_?)_(?_1367 04883)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,704,590 | 136,704,883 |
| essv6850292 | Remapped | Perfect | NC_000008.11:g.(13 6704591_?)_(?_1367 04887)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,704,591 | 136,704,887 |
| essv6701846 | Remapped | Perfect | NC_000008.11:g.(13 6704592_?)_(?_1367 04886)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,704,592 | 136,704,886 |
| essv6866431 | Remapped | Perfect | NC_000008.11:g.(13 6704593_?)_(?_1367 04849)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,704,593 | 136,704,849 |
| essv6819029 | Remapped | Perfect | NC_000008.11:g.(13 6704593_?)_(?_1367 04881)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,704,593 | 136,704,881 |
| essv6931222 | Remapped | Perfect | NC_000008.11:g.(13 6704593_?)_(?_1367 04912)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,704,593 | 136,704,912 |
| essv6672215 | Remapped | Perfect | NC_000008.11:g.(13 6704594_?)_(?_1367 04836)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,704,594 | 136,704,836 |
| essv6908315 | Remapped | Perfect | NC_000008.11:g.(13 6704594_?)_(?_1367 04879)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,704,594 | 136,704,879 |
| essv6976096 | Remapped | Perfect | NC_000008.11:g.(13 6704595_?)_(?_1367 04885)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,704,595 | 136,704,885 |
| essv6841906 | Remapped | Perfect | NC_000008.11:g.(13 6704595_?)_(?_1367 04894)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,704,595 | 136,704,894 |
| essv6931223 | Remapped | Perfect | NC_000008.11:g.(13 6781729_?)_(?_1367 82081)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,781,729 | 136,782,081 |
| essv6707832 | Submitted genomic | NC_000008.10:g.(13 7680474_?)_(?_1378 62283)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 137,680,474 | 137,862,283 | ||
| essv6856310 | Submitted genomic | NC_000008.10:g.(13 7716796_?)_(?_1377 17128)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 137,716,796 | 137,717,128 | ||
| essv6838088 | Submitted genomic | NC_000008.10:g.(13 7716813_?)_(?_1377 17122)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 137,716,813 | 137,717,122 | ||
| essv6966874 | Submitted genomic | NC_000008.10:g.(13 7716813_?)_(?_1377 17126)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 137,716,813 | 137,717,126 | ||
| essv6823078 | Submitted genomic | NC_000008.10:g.(13 7716814_?)_(?_1377 17091)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 137,716,814 | 137,717,091 | ||
| essv6958265 | Submitted genomic | NC_000008.10:g.(13 7716815_?)_(?_1377 17123)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 137,716,815 | 137,717,123 | ||
| essv6915653 | Submitted genomic | NC_000008.10:g.(13 7716818_?)_(?_1377 17127)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 137,716,818 | 137,717,127 | ||
| essv6691119 | Submitted genomic | NC_000008.10:g.(13 7716820_?)_(?_1377 17126)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 137,716,820 | 137,717,126 | ||
| essv6799616 | Submitted genomic | NC_000008.10:g.(13 7716820_?)_(?_1377 17128)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 137,716,820 | 137,717,128 | ||
| essv6890808 | Submitted genomic | NC_000008.10:g.(13 7716821_?)_(?_1377 17137)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 137,716,821 | 137,717,137 | ||
| essv6879101 | Submitted genomic | NC_000008.10:g.(13 7716822_?)_(?_1377 17132)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 137,716,822 | 137,717,132 | ||
| essv6861707 | Submitted genomic | NC_000008.10:g.(13 7716825_?)_(?_1377 17129)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 137,716,825 | 137,717,129 | ||
| essv6894152 | Submitted genomic | NC_000008.10:g.(13 7716825_?)_(?_1377 17146)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 137,716,825 | 137,717,146 | ||
| essv6805964 | Submitted genomic | NC_000008.10:g.(13 7716826_?)_(?_1377 17141)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 137,716,826 | 137,717,141 | ||
| essv6881939 | Submitted genomic | NC_000008.10:g.(13 7716828_?)_(?_1377 17141)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 137,716,828 | 137,717,141 | ||
| essv6897240 | Submitted genomic | NC_000008.10:g.(13 7716828_?)_(?_1377 17187)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 137,716,828 | 137,717,187 | ||
| essv6811829 | Submitted genomic | NC_000008.10:g.(13 7716829_?)_(?_1377 17126)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 137,716,829 | 137,717,126 | ||
| essv6905029 | Submitted genomic | NC_000008.10:g.(13 7716829_?)_(?_1377 17155)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 137,716,829 | 137,717,155 | ||
| essv6827130 | Submitted genomic | NC_000008.10:g.(13 7716831_?)_(?_1377 17129)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 137,716,831 | 137,717,129 | ||
| essv6795435 | Submitted genomic | NC_000008.10:g.(13 7716831_?)_(?_1377 17130)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 137,716,831 | 137,717,130 | ||
| essv6778895 | Submitted genomic | NC_000008.10:g.(13 7716831_?)_(?_1377 17131)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 137,716,831 | 137,717,131 | ||
| essv6861276 | Submitted genomic | NC_000008.10:g.(13 7716831_?)_(?_1377 17133)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 137,716,831 | 137,717,133 | ||
| essv6677261 | Submitted genomic | NC_000008.10:g.(13 7716831_?)_(?_1377 17158)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 137,716,831 | 137,717,158 | ||
| essv6870330 | Submitted genomic | NC_000008.10:g.(13 7716832_?)_(?_1377 17124)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 137,716,832 | 137,717,124 | ||
| essv6964856 | Submitted genomic | NC_000008.10:g.(13 7716833_?)_(?_1377 17125)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 137,716,833 | 137,717,125 | ||
| essv6727790 | Submitted genomic | NC_000008.10:g.(13 7716833_?)_(?_1377 17126)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 137,716,833 | 137,717,126 | ||
| essv6900224 | Submitted genomic | NC_000008.10:g.(13 7716833_?)_(?_1377 17126)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 137,716,833 | 137,717,126 | ||
| essv6850292 | Submitted genomic | NC_000008.10:g.(13 7716834_?)_(?_1377 17130)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 137,716,834 | 137,717,130 | ||
| essv6701846 | Submitted genomic | NC_000008.10:g.(13 7716835_?)_(?_1377 17129)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 137,716,835 | 137,717,129 | ||
| essv6866431 | Submitted genomic | NC_000008.10:g.(13 7716836_?)_(?_1377 17092)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 137,716,836 | 137,717,092 | ||
| essv6819029 | Submitted genomic | NC_000008.10:g.(13 7716836_?)_(?_1377 17124)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 137,716,836 | 137,717,124 | ||
| essv6931222 | Submitted genomic | NC_000008.10:g.(13 7716836_?)_(?_1377 17155)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 137,716,836 | 137,717,155 | ||
| essv6672215 | Submitted genomic | NC_000008.10:g.(13 7716837_?)_(?_1377 17079)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 137,716,837 | 137,717,079 | ||
| essv6908315 | Submitted genomic | NC_000008.10:g.(13 7716837_?)_(?_1377 17122)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 137,716,837 | 137,717,122 | ||
| essv6976096 | Submitted genomic | NC_000008.10:g.(13 7716838_?)_(?_1377 17128)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 137,716,838 | 137,717,128 | ||
| essv6841906 | Submitted genomic | NC_000008.10:g.(13 7716838_?)_(?_1377 17137)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 137,716,838 | 137,717,137 | ||
| essv6931223 | Submitted genomic | NC_000008.10:g.(13 7793972_?)_(?_1377 94324)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 137,793,972 | 137,794,324 |