esv2829864
- Organism: Homo sapiens
- Study:estd206 (Nagirnaja et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:11
- Validation:Not tested
- Clinical Assertions: No
- Region Size:60,549
- Description:FREQ_IN_CASES=11/43
- Publication(s):Nagirnaja et al. 2014
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: 2573 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 2573 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 1264 SVs from 32 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2829864 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 78,263,213 | 78,323,761 |
| esv2829864 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 78,972,930 | 79,033,478 |
| esv2829864 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 79,029,649 | 79,090,197 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Copy number |
|---|---|---|---|---|---|
| essv7099143 | copy number gain | SNP array | Probe signal intensity | Recurrent miscarriage | 3 |
| essv7099144 | copy number loss | SNP array | Probe signal intensity | Recurrent miscarriage | 0 |
| essv7099145 | copy number loss | SNP array | Probe signal intensity | Recurrent miscarriage | 1 |
| essv7099146 | copy number loss | SNP array | Probe signal intensity | Recurrent miscarriage | 0 |
| essv7099147 | copy number gain | SNP array | Probe signal intensity | Recurrent miscarriage | 3 |
| essv7099149 | copy number gain | SNP array | Probe signal intensity | Recurrent miscarriage | 3 |
| essv7099150 | copy number loss | SNP array | Probe signal intensity | Recurrent miscarriage | 1 |
| essv7099151 | copy number loss | SNP array | Probe signal intensity | Recurrent miscarriage | 1 |
| essv7099152 | copy number gain | SNP array | Probe signal intensity | Recurrent miscarriage | 3 |
| essv7099153 | copy number loss | SNP array | Probe signal intensity | Recurrent miscarriage | 1 |
| essv7099154 | copy number gain | SNP array | Probe signal intensity | Recurrent miscarriage | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7099143 | Remapped | Perfect | NC_000006.12:g.(?_ 78263213)_(7831661 3_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,263,213 | 78,316,613 |
| essv7099144 | Remapped | Perfect | NC_000006.12:g.(?_ 78263213)_(7832376 1_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,263,213 | 78,323,761 |
| essv7099145 | Remapped | Perfect | NC_000006.12:g.(?_ 78263213)_(7832376 1_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,263,213 | 78,323,761 |
| essv7099146 | Remapped | Perfect | NC_000006.12:g.(?_ 78263213)_(7832376 1_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,263,213 | 78,323,761 |
| essv7099147 | Remapped | Perfect | NC_000006.12:g.(?_ 78265373)_(7832376 1_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,265,373 | 78,323,761 |
| essv7099149 | Remapped | Perfect | NC_000006.12:g.(?_ 78275920)_(7832376 1_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,275,920 | 78,323,761 |
| essv7099150 | Remapped | Perfect | NC_000006.12:g.(?_ 78275920)_(7832376 1_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,275,920 | 78,323,761 |
| essv7099151 | Remapped | Perfect | NC_000006.12:g.(?_ 78275920)_(7832376 1_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,275,920 | 78,323,761 |
| essv7099152 | Remapped | Perfect | NC_000006.12:g.(?_ 78293022)_(7830858 0_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,293,022 | 78,308,580 |
| essv7099153 | Remapped | Perfect | NC_000006.12:g.(?_ 78293022)_(7830858 0_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,293,022 | 78,308,580 |
| essv7099154 | Remapped | Perfect | NC_000006.12:g.(?_ 78301459)_(7832376 1_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,301,459 | 78,323,761 |
| essv7099143 | Remapped | Perfect | NC_000006.11:g.(?_ 78972930)_(7902633 0_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,972,930 | 79,026,330 |
| essv7099144 | Remapped | Perfect | NC_000006.11:g.(?_ 78972930)_(7903347 8_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,972,930 | 79,033,478 |
| essv7099145 | Remapped | Perfect | NC_000006.11:g.(?_ 78972930)_(7903347 8_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,972,930 | 79,033,478 |
| essv7099146 | Remapped | Perfect | NC_000006.11:g.(?_ 78972930)_(7903347 8_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,972,930 | 79,033,478 |
| essv7099147 | Remapped | Perfect | NC_000006.11:g.(?_ 78975090)_(7903347 8_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,975,090 | 79,033,478 |
| essv7099149 | Remapped | Perfect | NC_000006.11:g.(?_ 78985637)_(7903347 8_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,985,637 | 79,033,478 |
| essv7099150 | Remapped | Perfect | NC_000006.11:g.(?_ 78985637)_(7903347 8_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,985,637 | 79,033,478 |
| essv7099151 | Remapped | Perfect | NC_000006.11:g.(?_ 78985637)_(7903347 8_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,985,637 | 79,033,478 |
| essv7099152 | Remapped | Perfect | NC_000006.11:g.(?_ 79002739)_(7901829 7_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 79,002,739 | 79,018,297 |
| essv7099153 | Remapped | Perfect | NC_000006.11:g.(?_ 79002739)_(7901829 7_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 79,002,739 | 79,018,297 |
| essv7099154 | Remapped | Perfect | NC_000006.11:g.(?_ 79011176)_(7903347 8_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 79,011,176 | 79,033,478 |
| essv7099143 | Submitted genomic | NC_000006.10:g.(?_ 79029649)_(7908304 9_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,029,649 | 79,083,049 | ||
| essv7099144 | Submitted genomic | NC_000006.10:g.(?_ 79029649)_(7909019 7_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,029,649 | 79,090,197 | ||
| essv7099145 | Submitted genomic | NC_000006.10:g.(?_ 79029649)_(7909019 7_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,029,649 | 79,090,197 | ||
| essv7099146 | Submitted genomic | NC_000006.10:g.(?_ 79029649)_(7909019 7_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,029,649 | 79,090,197 | ||
| essv7099147 | Submitted genomic | NC_000006.10:g.(?_ 79031809)_(7909019 7_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,031,809 | 79,090,197 | ||
| essv7099149 | Submitted genomic | NC_000006.10:g.(?_ 79042356)_(7909019 7_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,042,356 | 79,090,197 | ||
| essv7099150 | Submitted genomic | NC_000006.10:g.(?_ 79042356)_(7909019 7_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,042,356 | 79,090,197 | ||
| essv7099151 | Submitted genomic | NC_000006.10:g.(?_ 79042356)_(7909019 7_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,042,356 | 79,090,197 | ||
| essv7099152 | Submitted genomic | NC_000006.10:g.(?_ 79059458)_(7907501 6_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,059,458 | 79,075,016 | ||
| essv7099153 | Submitted genomic | NC_000006.10:g.(?_ 79059458)_(7907501 6_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,059,458 | 79,075,016 | ||
| essv7099154 | Submitted genomic | NC_000006.10:g.(?_ 79067895)_(7909019 7_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,067,895 | 79,090,197 |