esv4011097
- Organism: Homo sapiens
- Study:estd236 (Kurtas et al. 2018)
- Variant Type:complex chromosomal rearrangement
- Method Type:Oligo aCGH, PCR, Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:6
- Validation:Not tested
- Clinical Assertions: No
- Region Size:49,029,573
- Publication(s):Kurtas et al. 2018
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: 115125 SVs from 140 studies. See in: genome view
Overlapping variant regions from other studies: 115147 SVs from 140 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
|---|---|---|---|---|---|---|---|---|---|---|
| esv4011097 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 125,976,700 | 175,006,272 | + |
| esv4011097 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 125,695,543 | 174,724,062 | + |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|---|
| essv26067109 | inversion | 1002 | Oligo aCGH, PCR, Sequencing | Manual observation, Merging, Read depth and paired-end mapping | 2 | Heterozygous | 7 |
| essv26067108 | intrachromosomal translocation | 1002 | Oligo aCGH, PCR, Sequencing | Manual observation, Merging, Read depth and paired-end mapping | 2 | Heterozygous | 7 |
| essv26067120 | intrachromosomal translocation | 1002 | Oligo aCGH, PCR, Sequencing | Manual observation, Merging, Read depth and paired-end mapping | 2 | Heterozygous | 7 |
| essv26067103 | intrachromosomal translocation | 1002 | Oligo aCGH, PCR, Sequencing | Manual observation, Merging, Read depth and paired-end mapping | 2 | Heterozygous | 7 |
| essv26067118 | intrachromosomal translocation | 1002 | Oligo aCGH, PCR, Sequencing | Manual observation, Merging, Read depth and paired-end mapping | 2 | Heterozygous | 7 |
| essv26067124 | intrachromosomal translocation | 1002 | Oligo aCGH, PCR, Sequencing | Manual observation, Merging, Read depth and paired-end mapping | 2 | Heterozygous | 7 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
|---|---|---|---|---|---|---|---|---|---|---|
| essv26067109 | Remapped | Perfect | NC_000003.12:g.125 976700invNC_000003 .12:g.133745712inv | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 125,976,700 | 125,976,700 | |
| essv26067108 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 125,976,701 | 125,976,701 | - | |
| essv26067109 | Remapped | Perfect | NC_000003.12:g.125 976700invNC_000003 .12:g.133745712inv | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 133,745,712 | 133,745,712 | |
| essv26067120 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 133,745,713 | 133,745,713 | + | |
| essv26067103 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 144,161,590 | 144,161,590 | + | |
| essv26067118 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 144,161,591 | 144,161,591 | + | |
| essv26067120 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 169,874,700 | 169,874,700 | + | |
| essv26067124 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 169,874,701 | 169,874,701 | - | |
| essv26067108 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 174,762,635 | 174,762,635 | - | |
| essv26067118 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 174,766,005 | 174,766,005 | - | |
| essv26067124 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 175,006,271 | 175,006,271 | - | |
| essv26067103 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 175,006,272 | 175,006,272 | + | |
| essv26067109 | Submitted genomic | [NC_000003.11:g.12 5695543inv];[NC_00 0003.11:g.13346455 6inv] | GRCh37 (hg19) | NC_000003.11 | Chr3 | 125,695,543 | 125,695,543 | |||
| essv26067108 | Submitted genomic | GRCh37 (hg19) | NC_000003.11 | Chr3 | 125,695,544 | 125,695,544 | - | |||
| essv26067109 | Submitted genomic | [NC_000003.11:g.12 5695543inv];[NC_00 0003.11:g.13346455 6inv] | GRCh37 (hg19) | NC_000003.11 | Chr3 | 133,464,556 | 133,464,556 | |||
| essv26067120 | Submitted genomic | GRCh37 (hg19) | NC_000003.11 | Chr3 | 133,464,557 | 133,464,557 | + | |||
| essv26067103 | Submitted genomic | GRCh37 (hg19) | NC_000003.11 | Chr3 | 143,880,432 | 143,880,432 | + | |||
| essv26067118 | Submitted genomic | GRCh37 (hg19) | NC_000003.11 | Chr3 | 143,880,433 | 143,880,433 | + | |||
| essv26067120 | Submitted genomic | GRCh37 (hg19) | NC_000003.11 | Chr3 | 169,592,488 | 169,592,488 | + | |||
| essv26067124 | Submitted genomic | GRCh37 (hg19) | NC_000003.11 | Chr3 | 169,592,489 | 169,592,489 | - | |||
| essv26067108 | Submitted genomic | GRCh37 (hg19) | NC_000003.11 | Chr3 | 174,480,425 | 174,480,425 | - | |||
| essv26067118 | Submitted genomic | GRCh37 (hg19) | NC_000003.11 | Chr3 | 174,483,795 | 174,483,795 | - | |||
| essv26067124 | Submitted genomic | GRCh37 (hg19) | NC_000003.11 | Chr3 | 174,724,061 | 174,724,061 | - | |||
| essv26067103 | Submitted genomic | GRCh37 (hg19) | NC_000003.11 | Chr3 | 174,724,062 | 174,724,062 | + |