esv2738432
- Organism: Homo sapiens
- Study:estd201 (Wong et al. 2013)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:22
- Validation:Not tested
- Clinical Assertions: No
- Region Size:46,544
- 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: 346 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 353 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 | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2738432 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 37,053,920 | 37,100,463 |
| esv2738432 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 37,053,917 | 37,100,460 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv6734871 | deletion | SSM049 | Sequencing | Paired-end mapping | 2,250 |
| essv6801909 | deletion | SSM009 | Sequencing | Paired-end mapping | 2,898 |
| essv6771579 | deletion | SSM065 | Sequencing | Paired-end mapping | 3,542 |
| essv6939825 | deletion | SSM022 | Sequencing | Paired-end mapping | 3,696 |
| essv6783013 | deletion | SSM068 | Sequencing | Paired-end mapping | 3,722 |
| essv6791344 | deletion | SSM070 | Sequencing | Paired-end mapping | 3,746 |
| essv6698428 | deletion | SSM038 | Sequencing | Paired-end mapping | 2,327 |
| essv6716281 | deletion | SSM043 | Sequencing | Paired-end mapping | 3,539 |
| essv6850405 | deletion | SSM086 | Sequencing | Paired-end mapping | 5,602 |
| essv6720228 | deletion | SSM044 | Sequencing | Paired-end mapping | 3,453 |
| essv6768133 | deletion | SSM064 | Sequencing | Paired-end mapping | 2,654 |
| essv6944363 | deletion | SSM023 | Sequencing | Paired-end mapping | 4,243 |
| essv6787236 | deletion | SSM069 | Sequencing | Paired-end mapping | 3,725 |
| essv6677330 | deletion | SSM032 | Sequencing | Paired-end mapping | 3,551 |
| essv6856423 | deletion | SSM087 | Sequencing | Paired-end mapping | 5,379 |
| essv6890853 | deletion | SSM097 | Sequencing | Paired-end mapping | 2,968 |
| essv6691487 | deletion | SSM001 | Sequencing | Paired-end mapping | 2,205 |
| essv6905362 | deletion | SSM002 | Sequencing | Paired-end mapping | 2,248 |
| essv6737536 | deletion | SSM050 | Sequencing | Paired-end mapping | 2,538 |
| essv6894710 | deletion | SSM012 | Sequencing | Paired-end mapping | 3,093 |
| essv6809002 | deletion | SSM075 | Sequencing | Paired-end mapping | 2,669 |
| essv6734732 | deletion | SSM007 | Sequencing | Paired-end mapping | 2,647 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv6734871 | Remapped | Perfect | NC_000009.12:g.(37 053920_?)_(?_37100 355)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 37,053,920 | 37,100,355 |
| essv6801909 | Remapped | Perfect | NC_000009.12:g.(37 053962_?)_(?_37100 463)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 37,053,962 | 37,100,463 |
| essv6771579 | Remapped | Perfect | NC_000009.12:g.(37 053992_?)_(?_37100 456)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 37,053,992 | 37,100,456 |
| essv6939825 | Remapped | Perfect | NC_000009.12:g.(37 053992_?)_(?_37100 456)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 37,053,992 | 37,100,456 |
| essv6783013 | Remapped | Perfect | NC_000009.12:g.(37 054020_?)_(?_37100 461)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 37,054,020 | 37,100,461 |
| essv6791344 | Remapped | Perfect | NC_000009.12:g.(37 054023_?)_(?_37100 454)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 37,054,023 | 37,100,454 |
| essv6698428 | Remapped | Perfect | NC_000009.12:g.(37 054023_?)_(?_37100 463)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 37,054,023 | 37,100,463 |
| essv6716281 | Remapped | Perfect | NC_000009.12:g.(37 054026_?)_(?_37100 462)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 37,054,026 | 37,100,462 |
| essv6850405 | Remapped | Perfect | NC_000009.12:g.(37 054028_?)_(?_37100 381)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 37,054,028 | 37,100,381 |
| essv6720228 | Remapped | Perfect | NC_000009.12:g.(37 054029_?)_(?_37100 459)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 37,054,029 | 37,100,459 |
| essv6768133 | Remapped | Perfect | NC_000009.12:g.(37 054030_?)_(?_37100 457)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 37,054,030 | 37,100,457 |
| essv6944363 | Remapped | Perfect | NC_000009.12:g.(37 054030_?)_(?_37100 457)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 37,054,030 | 37,100,457 |
| essv6787236 | Remapped | Perfect | NC_000009.12:g.(37 054033_?)_(?_37100 457)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 37,054,033 | 37,100,457 |
| essv6677330 | Remapped | Perfect | NC_000009.12:g.(37 054051_?)_(?_37100 458)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 37,054,051 | 37,100,458 |
| essv6856423 | Remapped | Perfect | NC_000009.12:g.(37 054105_?)_(?_37100 458)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 37,054,105 | 37,100,458 |
| essv6890853 | Remapped | Perfect | NC_000009.12:g.(37 054115_?)_(?_37100 463)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 37,054,115 | 37,100,463 |
| essv6691487 | Remapped | Perfect | NC_000009.12:g.(37 054132_?)_(?_37100 185)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 37,054,132 | 37,100,185 |
| essv6905362 | Remapped | Perfect | NC_000009.12:g.(37 054177_?)_(?_37100 430)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 37,054,177 | 37,100,430 |
| essv6737536 | Remapped | Perfect | NC_000009.12:g.(37 071344_?)_(?_37111 195)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 37,071,344 | 37,111,195 |
| essv6894710 | Remapped | Perfect | NC_000009.12:g.(37 071409_?)_(?_37111 179)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 37,071,409 | 37,111,179 |
| essv6809002 | Remapped | Perfect | NC_000009.12:g.(37 071412_?)_(?_37111 189)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 37,071,412 | 37,111,189 |
| essv6734732 | Remapped | Perfect | NC_000009.12:g.(37 071448_?)_(?_37111 184)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 37,071,448 | 37,111,184 |
| essv6734871 | Submitted genomic | NC_000009.11:g.(37 053917_?)_(?_37100 352)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 37,053,917 | 37,100,352 | ||
| essv6801909 | Submitted genomic | NC_000009.11:g.(37 053959_?)_(?_37100 460)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 37,053,959 | 37,100,460 | ||
| essv6771579 | Submitted genomic | NC_000009.11:g.(37 053989_?)_(?_37100 453)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 37,053,989 | 37,100,453 | ||
| essv6939825 | Submitted genomic | NC_000009.11:g.(37 053989_?)_(?_37100 453)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 37,053,989 | 37,100,453 | ||
| essv6783013 | Submitted genomic | NC_000009.11:g.(37 054017_?)_(?_37100 458)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 37,054,017 | 37,100,458 | ||
| essv6791344 | Submitted genomic | NC_000009.11:g.(37 054020_?)_(?_37100 451)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 37,054,020 | 37,100,451 | ||
| essv6698428 | Submitted genomic | NC_000009.11:g.(37 054020_?)_(?_37100 460)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 37,054,020 | 37,100,460 | ||
| essv6716281 | Submitted genomic | NC_000009.11:g.(37 054023_?)_(?_37100 459)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 37,054,023 | 37,100,459 | ||
| essv6850405 | Submitted genomic | NC_000009.11:g.(37 054025_?)_(?_37100 378)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 37,054,025 | 37,100,378 | ||
| essv6720228 | Submitted genomic | NC_000009.11:g.(37 054026_?)_(?_37100 456)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 37,054,026 | 37,100,456 | ||
| essv6768133 | Submitted genomic | NC_000009.11:g.(37 054027_?)_(?_37100 454)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 37,054,027 | 37,100,454 | ||
| essv6944363 | Submitted genomic | NC_000009.11:g.(37 054027_?)_(?_37100 454)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 37,054,027 | 37,100,454 | ||
| essv6787236 | Submitted genomic | NC_000009.11:g.(37 054030_?)_(?_37100 454)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 37,054,030 | 37,100,454 | ||
| essv6677330 | Submitted genomic | NC_000009.11:g.(37 054048_?)_(?_37100 455)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 37,054,048 | 37,100,455 | ||
| essv6856423 | Submitted genomic | NC_000009.11:g.(37 054102_?)_(?_37100 455)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 37,054,102 | 37,100,455 | ||
| essv6890853 | Submitted genomic | NC_000009.11:g.(37 054112_?)_(?_37100 460)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 37,054,112 | 37,100,460 | ||
| essv6691487 | Submitted genomic | NC_000009.11:g.(37 054129_?)_(?_37100 182)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 37,054,129 | 37,100,182 | ||
| essv6905362 | Submitted genomic | NC_000009.11:g.(37 054174_?)_(?_37100 427)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 37,054,174 | 37,100,427 | ||
| essv6737536 | Submitted genomic | NC_000009.11:g.(37 071341_?)_(?_37111 192)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 37,071,341 | 37,111,192 | ||
| essv6894710 | Submitted genomic | NC_000009.11:g.(37 071406_?)_(?_37111 176)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 37,071,406 | 37,111,176 | ||
| essv6809002 | Submitted genomic | NC_000009.11:g.(37 071409_?)_(?_37111 186)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 37,071,409 | 37,111,186 | ||
| essv6734732 | Submitted genomic | NC_000009.11:g.(37 071445_?)_(?_37111 181)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 37,071,445 | 37,111,181 |