esv2829843
- Organism: Homo sapiens
- Study:estd206 (Nagirnaja et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:53,351
- Description:FREQ_IN_CASES=4/43
- 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: 844 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 844 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 307 SVs from 24 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 |
---|---|---|---|---|---|---|---|---|---|
esv2829843 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 97,712,762 | 97,766,112 |
esv2829843 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 97,048,466 | 97,101,816 |
esv2829843 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 97,074,222 | 97,127,572 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Copy number |
---|---|---|---|---|---|
essv7099087 | copy number loss | SNP array | Probe signal intensity | Recurrent miscarriage | 1 |
essv7099088 | copy number loss | SNP array | Probe signal intensity | Recurrent miscarriage | 1 |
essv7099089 | copy number loss | SNP array | Probe signal intensity | Recurrent miscarriage | 1 |
essv7099090 | copy number loss | SNP array | Probe signal intensity | Recurrent miscarriage | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
essv7099087 | Remapped | Perfect | NC_000005.10:g.(?_ 97712762)_(9776361 6_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 97,712,762 | 97,763,616 |
essv7099088 | Remapped | Perfect | NC_000005.10:g.(?_ 97712762)_(9776361 6_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 97,712,762 | 97,763,616 |
essv7099089 | Remapped | Perfect | NC_000005.10:g.(?_ 97715459)_(9776611 2_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 97,715,459 | 97,766,112 |
essv7099090 | Remapped | Perfect | NC_000005.10:g.(?_ 97715459)_(9776611 2_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 97,715,459 | 97,766,112 |
essv7099087 | Remapped | Perfect | NC_000005.9:g.(?_9 7048466)_(97099320 _?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 97,048,466 | 97,099,320 |
essv7099088 | Remapped | Perfect | NC_000005.9:g.(?_9 7048466)_(97099320 _?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 97,048,466 | 97,099,320 |
essv7099089 | Remapped | Perfect | NC_000005.9:g.(?_9 7051163)_(97101816 _?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 97,051,163 | 97,101,816 |
essv7099090 | Remapped | Perfect | NC_000005.9:g.(?_9 7051163)_(97101816 _?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 97,051,163 | 97,101,816 |
essv7099087 | Submitted genomic | NC_000005.8:g.(?_9 7074222)_(97125076 _?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 97,074,222 | 97,125,076 | ||
essv7099088 | Submitted genomic | NC_000005.8:g.(?_9 7074222)_(97125076 _?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 97,074,222 | 97,125,076 | ||
essv7099089 | Submitted genomic | NC_000005.8:g.(?_9 7076919)_(97127572 _?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 97,076,919 | 97,127,572 | ||
essv7099090 | Submitted genomic | NC_000005.8:g.(?_9 7076919)_(97127572 _?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 97,076,919 | 97,127,572 |