esv2757739
- Organism: Homo sapiens
- Study:estd1 (Redon et al. 2006)
- Variant Type:copy number variation
- Method Type:BAC aCGH
- Submitted on:NCBI35 (hg17)
- Variant Calls:27
- Validation:Not tested
- Clinical Assertions: No
- Region Size:148,656
- Publication(s):Redon et al. 2006
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: 614 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 614 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 19 SVs from 6 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2757739 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 88,946,385 | 89,095,040 |
| esv2757739 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 89,412,068 | 89,560,723 |
| esv2757739 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000001.8 | Chr1 | 89,124,089 | 89,272,744 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv10023 | copy number gain | NA19099 | BAC aCGH | Probe signal intensity | 138 |
| essv11730 | copy number gain | NA19154 | BAC aCGH | Probe signal intensity | 139 |
| essv12245 | copy number gain | NA19101 | BAC aCGH | Probe signal intensity | 157 |
| essv13878 | copy number gain | NA18854 | BAC aCGH | Probe signal intensity | 136 |
| essv14320 | copy number gain | NA19194 | BAC aCGH | Probe signal intensity | 126 |
| essv14717 | copy number gain | NA19159 | BAC aCGH | Probe signal intensity | 142 |
| essv15024 | copy number gain | NA19129 | BAC aCGH | Probe signal intensity | 161 |
| essv15263 | copy number gain | NA19094 | BAC aCGH | Probe signal intensity | 121 |
| essv15803 | copy number gain | NA19223 | BAC aCGH | Probe signal intensity | 116 |
| essv16288 | copy number gain | NA19161 | BAC aCGH | Probe signal intensity | 144 |
| essv16481 | copy number gain | NA19210 | BAC aCGH | Probe signal intensity | 104 |
| essv17025 | copy number gain | NA19144 | BAC aCGH | Probe signal intensity | 157 |
| essv17166 | copy number gain | NA19171 | BAC aCGH | Probe signal intensity | 138 |
| essv17801 | copy number gain | NA10831 | BAC aCGH | Probe signal intensity | 132 |
| essv18729 | copy number gain | NA12874 | BAC aCGH | Probe signal intensity | 101 |
| essv18977 | copy number gain | NA12005 | BAC aCGH | Probe signal intensity | 129 |
| essv19389 | copy number gain | NA11840 | BAC aCGH | Probe signal intensity | 109 |
| essv20005 | copy number gain | NA07048 | BAC aCGH | Probe signal intensity | 157 |
| essv24668 | copy number gain | NA11829 | BAC aCGH | Probe signal intensity | 120 |
| essv2805 | copy number gain | NA18987 | BAC aCGH | Probe signal intensity | 79 |
| essv3068 | copy number gain | NA18981 | BAC aCGH | Probe signal intensity | 141 |
| essv5514 | copy number gain | NA18632 | BAC aCGH | Probe signal intensity | 108 |
| essv5558 | copy number gain | NA18529 | BAC aCGH | Probe signal intensity | 111 |
| essv6155 | copy number gain | NA18532 | BAC aCGH | Probe signal intensity | 101 |
| essv8170 | copy number gain | NA19206 | BAC aCGH | Probe signal intensity | 114 |
| essv898 | copy number gain | NA19000 | BAC aCGH | Probe signal intensity | 93 |
| essv9008 | copy number gain | NA19132 | BAC aCGH | Probe signal intensity | 131 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv10023 | Remapped | Perfect | NC_000001.11:g.(?_ 88946385)_(8909504 0_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 88,946,385 | 89,095,040 |
| essv11730 | Remapped | Perfect | NC_000001.11:g.(?_ 88946385)_(8909504 0_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 88,946,385 | 89,095,040 |
| essv12245 | Remapped | Perfect | NC_000001.11:g.(?_ 88946385)_(8909504 0_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 88,946,385 | 89,095,040 |
| essv13878 | Remapped | Perfect | NC_000001.11:g.(?_ 88946385)_(8909504 0_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 88,946,385 | 89,095,040 |
| essv14320 | Remapped | Perfect | NC_000001.11:g.(?_ 88946385)_(8909504 0_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 88,946,385 | 89,095,040 |
| essv14717 | Remapped | Perfect | NC_000001.11:g.(?_ 88946385)_(8909504 0_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 88,946,385 | 89,095,040 |
| essv15024 | Remapped | Perfect | NC_000001.11:g.(?_ 88946385)_(8909504 0_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 88,946,385 | 89,095,040 |
| essv15263 | Remapped | Perfect | NC_000001.11:g.(?_ 88946385)_(8909504 0_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 88,946,385 | 89,095,040 |
| essv15803 | Remapped | Perfect | NC_000001.11:g.(?_ 88946385)_(8909504 0_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 88,946,385 | 89,095,040 |
| essv16288 | Remapped | Perfect | NC_000001.11:g.(?_ 88946385)_(8909504 0_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 88,946,385 | 89,095,040 |
| essv16481 | Remapped | Perfect | NC_000001.11:g.(?_ 88946385)_(8909504 0_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 88,946,385 | 89,095,040 |
| essv17025 | Remapped | Perfect | NC_000001.11:g.(?_ 88946385)_(8909504 0_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 88,946,385 | 89,095,040 |
| essv17166 | Remapped | Perfect | NC_000001.11:g.(?_ 88946385)_(8909504 0_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 88,946,385 | 89,095,040 |
| essv17801 | Remapped | Perfect | NC_000001.11:g.(?_ 88946385)_(8909504 0_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 88,946,385 | 89,095,040 |
| essv18729 | Remapped | Perfect | NC_000001.11:g.(?_ 88946385)_(8909504 0_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 88,946,385 | 89,095,040 |
| essv18977 | Remapped | Perfect | NC_000001.11:g.(?_ 88946385)_(8909504 0_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 88,946,385 | 89,095,040 |
| essv19389 | Remapped | Perfect | NC_000001.11:g.(?_ 88946385)_(8909504 0_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 88,946,385 | 89,095,040 |
| essv20005 | Remapped | Perfect | NC_000001.11:g.(?_ 88946385)_(8909504 0_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 88,946,385 | 89,095,040 |
| essv24668 | Remapped | Perfect | NC_000001.11:g.(?_ 88946385)_(8909504 0_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 88,946,385 | 89,095,040 |
| essv2805 | Remapped | Perfect | NC_000001.11:g.(?_ 88946385)_(8909504 0_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 88,946,385 | 89,095,040 |
| essv3068 | Remapped | Perfect | NC_000001.11:g.(?_ 88946385)_(8909504 0_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 88,946,385 | 89,095,040 |
| essv5514 | Remapped | Perfect | NC_000001.11:g.(?_ 88946385)_(8909504 0_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 88,946,385 | 89,095,040 |
| essv5558 | Remapped | Perfect | NC_000001.11:g.(?_ 88946385)_(8909504 0_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 88,946,385 | 89,095,040 |
| essv6155 | Remapped | Perfect | NC_000001.11:g.(?_ 88946385)_(8909504 0_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 88,946,385 | 89,095,040 |
| essv8170 | Remapped | Perfect | NC_000001.11:g.(?_ 88946385)_(8909504 0_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 88,946,385 | 89,095,040 |
| essv898 | Remapped | Perfect | NC_000001.11:g.(?_ 88946385)_(8909504 0_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 88,946,385 | 89,095,040 |
| essv9008 | Remapped | Perfect | NC_000001.11:g.(?_ 88946385)_(8909504 0_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 88,946,385 | 89,095,040 |
| essv10023 | Remapped | Perfect | NC_000001.10:g.(?_ 89412068)_(8956072 3_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 89,412,068 | 89,560,723 |
| essv11730 | Remapped | Perfect | NC_000001.10:g.(?_ 89412068)_(8956072 3_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 89,412,068 | 89,560,723 |
| essv12245 | Remapped | Perfect | NC_000001.10:g.(?_ 89412068)_(8956072 3_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 89,412,068 | 89,560,723 |
| essv13878 | Remapped | Perfect | NC_000001.10:g.(?_ 89412068)_(8956072 3_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 89,412,068 | 89,560,723 |
| essv14320 | Remapped | Perfect | NC_000001.10:g.(?_ 89412068)_(8956072 3_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 89,412,068 | 89,560,723 |
| essv14717 | Remapped | Perfect | NC_000001.10:g.(?_ 89412068)_(8956072 3_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 89,412,068 | 89,560,723 |
| essv15024 | Remapped | Perfect | NC_000001.10:g.(?_ 89412068)_(8956072 3_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 89,412,068 | 89,560,723 |
| essv15263 | Remapped | Perfect | NC_000001.10:g.(?_ 89412068)_(8956072 3_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 89,412,068 | 89,560,723 |
| essv15803 | Remapped | Perfect | NC_000001.10:g.(?_ 89412068)_(8956072 3_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 89,412,068 | 89,560,723 |
| essv16288 | Remapped | Perfect | NC_000001.10:g.(?_ 89412068)_(8956072 3_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 89,412,068 | 89,560,723 |
| essv16481 | Remapped | Perfect | NC_000001.10:g.(?_ 89412068)_(8956072 3_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 89,412,068 | 89,560,723 |
| essv17025 | Remapped | Perfect | NC_000001.10:g.(?_ 89412068)_(8956072 3_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 89,412,068 | 89,560,723 |
| essv17166 | Remapped | Perfect | NC_000001.10:g.(?_ 89412068)_(8956072 3_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 89,412,068 | 89,560,723 |
| essv17801 | Remapped | Perfect | NC_000001.10:g.(?_ 89412068)_(8956072 3_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 89,412,068 | 89,560,723 |
| essv18729 | Remapped | Perfect | NC_000001.10:g.(?_ 89412068)_(8956072 3_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 89,412,068 | 89,560,723 |
| essv18977 | Remapped | Perfect | NC_000001.10:g.(?_ 89412068)_(8956072 3_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 89,412,068 | 89,560,723 |
| essv19389 | Remapped | Perfect | NC_000001.10:g.(?_ 89412068)_(8956072 3_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 89,412,068 | 89,560,723 |
| essv20005 | Remapped | Perfect | NC_000001.10:g.(?_ 89412068)_(8956072 3_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 89,412,068 | 89,560,723 |
| essv24668 | Remapped | Perfect | NC_000001.10:g.(?_ 89412068)_(8956072 3_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 89,412,068 | 89,560,723 |
| essv2805 | Remapped | Perfect | NC_000001.10:g.(?_ 89412068)_(8956072 3_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 89,412,068 | 89,560,723 |
| essv3068 | Remapped | Perfect | NC_000001.10:g.(?_ 89412068)_(8956072 3_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 89,412,068 | 89,560,723 |
| essv5514 | Remapped | Perfect | NC_000001.10:g.(?_ 89412068)_(8956072 3_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 89,412,068 | 89,560,723 |
| essv5558 | Remapped | Perfect | NC_000001.10:g.(?_ 89412068)_(8956072 3_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 89,412,068 | 89,560,723 |
| essv6155 | Remapped | Perfect | NC_000001.10:g.(?_ 89412068)_(8956072 3_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 89,412,068 | 89,560,723 |
| essv8170 | Remapped | Perfect | NC_000001.10:g.(?_ 89412068)_(8956072 3_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 89,412,068 | 89,560,723 |
| essv898 | Remapped | Perfect | NC_000001.10:g.(?_ 89412068)_(8956072 3_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 89,412,068 | 89,560,723 |
| essv9008 | Remapped | Perfect | NC_000001.10:g.(?_ 89412068)_(8956072 3_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 89,412,068 | 89,560,723 |
| essv10023 | Submitted genomic | NC_000001.8:g.(?_8 9124089)_(89272744 _?)dup | NCBI35 (hg17) | NC_000001.8 | Chr1 | 89,124,089 | 89,272,744 | ||
| essv11730 | Submitted genomic | NC_000001.8:g.(?_8 9124089)_(89272744 _?)dup | NCBI35 (hg17) | NC_000001.8 | Chr1 | 89,124,089 | 89,272,744 | ||
| essv12245 | Submitted genomic | NC_000001.8:g.(?_8 9124089)_(89272744 _?)dup | NCBI35 (hg17) | NC_000001.8 | Chr1 | 89,124,089 | 89,272,744 | ||
| essv13878 | Submitted genomic | NC_000001.8:g.(?_8 9124089)_(89272744 _?)dup | NCBI35 (hg17) | NC_000001.8 | Chr1 | 89,124,089 | 89,272,744 | ||
| essv14320 | Submitted genomic | NC_000001.8:g.(?_8 9124089)_(89272744 _?)dup | NCBI35 (hg17) | NC_000001.8 | Chr1 | 89,124,089 | 89,272,744 | ||
| essv14717 | Submitted genomic | NC_000001.8:g.(?_8 9124089)_(89272744 _?)dup | NCBI35 (hg17) | NC_000001.8 | Chr1 | 89,124,089 | 89,272,744 | ||
| essv15024 | Submitted genomic | NC_000001.8:g.(?_8 9124089)_(89272744 _?)dup | NCBI35 (hg17) | NC_000001.8 | Chr1 | 89,124,089 | 89,272,744 | ||
| essv15263 | Submitted genomic | NC_000001.8:g.(?_8 9124089)_(89272744 _?)dup | NCBI35 (hg17) | NC_000001.8 | Chr1 | 89,124,089 | 89,272,744 | ||
| essv15803 | Submitted genomic | NC_000001.8:g.(?_8 9124089)_(89272744 _?)dup | NCBI35 (hg17) | NC_000001.8 | Chr1 | 89,124,089 | 89,272,744 | ||
| essv16288 | Submitted genomic | NC_000001.8:g.(?_8 9124089)_(89272744 _?)dup | NCBI35 (hg17) | NC_000001.8 | Chr1 | 89,124,089 | 89,272,744 | ||
| essv16481 | Submitted genomic | NC_000001.8:g.(?_8 9124089)_(89272744 _?)dup | NCBI35 (hg17) | NC_000001.8 | Chr1 | 89,124,089 | 89,272,744 | ||
| essv17025 | Submitted genomic | NC_000001.8:g.(?_8 9124089)_(89272744 _?)dup | NCBI35 (hg17) | NC_000001.8 | Chr1 | 89,124,089 | 89,272,744 | ||
| essv17166 | Submitted genomic | NC_000001.8:g.(?_8 9124089)_(89272744 _?)dup | NCBI35 (hg17) | NC_000001.8 | Chr1 | 89,124,089 | 89,272,744 | ||
| essv17801 | Submitted genomic | NC_000001.8:g.(?_8 9124089)_(89272744 _?)dup | NCBI35 (hg17) | NC_000001.8 | Chr1 | 89,124,089 | 89,272,744 | ||
| essv18729 | Submitted genomic | NC_000001.8:g.(?_8 9124089)_(89272744 _?)dup | NCBI35 (hg17) | NC_000001.8 | Chr1 | 89,124,089 | 89,272,744 | ||
| essv18977 | Submitted genomic | NC_000001.8:g.(?_8 9124089)_(89272744 _?)dup | NCBI35 (hg17) | NC_000001.8 | Chr1 | 89,124,089 | 89,272,744 | ||
| essv19389 | Submitted genomic | NC_000001.8:g.(?_8 9124089)_(89272744 _?)dup | NCBI35 (hg17) | NC_000001.8 | Chr1 | 89,124,089 | 89,272,744 | ||
| essv20005 | Submitted genomic | NC_000001.8:g.(?_8 9124089)_(89272744 _?)dup | NCBI35 (hg17) | NC_000001.8 | Chr1 | 89,124,089 | 89,272,744 | ||
| essv24668 | Submitted genomic | NC_000001.8:g.(?_8 9124089)_(89272744 _?)dup | NCBI35 (hg17) | NC_000001.8 | Chr1 | 89,124,089 | 89,272,744 | ||
| essv2805 | Submitted genomic | NC_000001.8:g.(?_8 9124089)_(89272744 _?)dup | NCBI35 (hg17) | NC_000001.8 | Chr1 | 89,124,089 | 89,272,744 | ||
| essv3068 | Submitted genomic | NC_000001.8:g.(?_8 9124089)_(89272744 _?)dup | NCBI35 (hg17) | NC_000001.8 | Chr1 | 89,124,089 | 89,272,744 | ||
| essv5514 | Submitted genomic | NC_000001.8:g.(?_8 9124089)_(89272744 _?)dup | NCBI35 (hg17) | NC_000001.8 | Chr1 | 89,124,089 | 89,272,744 | ||
| essv5558 | Submitted genomic | NC_000001.8:g.(?_8 9124089)_(89272744 _?)dup | NCBI35 (hg17) | NC_000001.8 | Chr1 | 89,124,089 | 89,272,744 | ||
| essv6155 | Submitted genomic | NC_000001.8:g.(?_8 9124089)_(89272744 _?)dup | NCBI35 (hg17) | NC_000001.8 | Chr1 | 89,124,089 | 89,272,744 | ||
| essv8170 | Submitted genomic | NC_000001.8:g.(?_8 9124089)_(89272744 _?)dup | NCBI35 (hg17) | NC_000001.8 | Chr1 | 89,124,089 | 89,272,744 | ||
| essv898 | Submitted genomic | NC_000001.8:g.(?_8 9124089)_(89272744 _?)dup | NCBI35 (hg17) | NC_000001.8 | Chr1 | 89,124,089 | 89,272,744 | ||
| essv9008 | Submitted genomic | NC_000001.8:g.(?_8 9124089)_(89272744 _?)dup | NCBI35 (hg17) | NC_000001.8 | Chr1 | 89,124,089 | 89,272,744 |