esv2656115
- Organism: Homo sapiens
- Study:estd198 (Chia et al. 2013)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:2
- Validation:Yes
- Clinical Assertions: No
- Region Size:10,614
- Publication(s):Chia 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: 809 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 127 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 128 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 809 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 380 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 |
---|---|---|---|---|---|---|---|---|---|
esv2656115 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 79,013,973 | 79,019,152 |
esv2656115 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187666.1 | Chr18|NT_1 87666.1 | 79,088 | 88,139 |
esv2656115 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315961.1 | Chr18|NW_0 03315961.1 | 79,089 | 89,702 |
esv2656115 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000018.9 | Chr18 | 76,773,973 | 76,779,152 |
esv2656115 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000018.8 | Chr18 | 74,874,961 | 74,880,140 |
Variant Call Information
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
essv5395421 | Remapped | Pass | NT_187666.1:g.(?_7 9088)_(88139_?)del | GRCh38.p12 | Second Pass | NT_187666.1 | Chr18|NT_1 87666.1 | 79,088 | 88,139 |
essv5395249 | Remapped | Pass | NT_187666.1:g.(?_7 9768)_(86130_?)del | GRCh38.p12 | Second Pass | NT_187666.1 | Chr18|NT_1 87666.1 | 79,768 | 86,130 |
essv5395421 | Remapped | Pass | NW_003315961.1:g.( ?_79089)_(89702_?) del | GRCh38.p12 | Second Pass | NW_003315961.1 | Chr18|NW_0 03315961.1 | 79,089 | 89,702 |
essv5395249 | Remapped | Pass | NW_003315961.1:g.( ?_79769)_(87692_?) del | GRCh38.p12 | Second Pass | NW_003315961.1 | Chr18|NW_0 03315961.1 | 79,769 | 87,692 |
essv5395421 | Remapped | Perfect | NC_000018.10:g.(?_ 79013973)_(7901915 2_?)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 79,013,973 | 79,019,152 |
essv5395249 | Remapped | Perfect | NC_000018.10:g.(?_ 79014653)_(7901714 3_?)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 79,014,653 | 79,017,143 |
essv5395421 | Remapped | Perfect | NC_000018.9:g.(?_7 6773973)_(76779152 _?)del | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 76,773,973 | 76,779,152 |
essv5395249 | Remapped | Perfect | NC_000018.9:g.(?_7 6774653)_(76777143 _?)del | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 76,774,653 | 76,777,143 |
essv5395421 | Submitted genomic | NC_000018.8:g.(?_7 4874961)_(74880140 _?)del | NCBI36 (hg18) | NC_000018.8 | Chr18 | 74,874,961 | 74,880,140 | ||
essv5395249 | Submitted genomic | NC_000018.8:g.(?_7 4875641)_(74878131 _?)del | NCBI36 (hg18) | NC_000018.8 | Chr18 | 74,875,641 | 74,878,131 |
Validation Information
Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
---|---|---|---|---|---|
essv5395249 | 2 | 2311 [10] | Karyotyping | Manual observation | Pass |
essv5395421 | 2 | 2377 [55] | Karyotyping | Manual observation | Pass |