esv3892184
- Organism: Homo sapiens
- Study:estd224 (Suktitipat et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:18
- Validation:Not tested
- Clinical Assertions: No
- Region Size:470,242
- Publication(s):Suktitipat 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: 4130 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 4130 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 1242 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 | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3892184 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 37,567,966 | 37,700,536 | 37,933,847 | 38,038,207 |
| esv3892184 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 37,961,768 | 38,094,338 | 38,327,649 | 38,432,009 |
| esv3892184 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 36,248,035 | 36,380,605 | 36,613,916 | 36,718,276 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Copy number |
|---|---|---|---|---|
| essv25787932 | copy number gain | SNP array | Probe signal intensity | 3 |
| essv25790393 | copy number gain | SNP array | Probe signal intensity | 3 |
| essv25790733 | copy number gain | SNP array | Probe signal intensity | 3 |
| essv25792763 | copy number gain | SNP array | Probe signal intensity | 3 |
| essv25790427 | copy number gain | SNP array | Probe signal intensity | 3 |
| essv25788300 | copy number gain | SNP array | Probe signal intensity | 3 |
| essv25788172 | copy number gain | SNP array | Probe signal intensity | 3 |
| essv25787124 | copy number loss | SNP array | Probe signal intensity | 1 |
| essv25787227 | copy number loss | SNP array | Probe signal intensity | 1 |
| essv25785711 | copy number loss | SNP array | Probe signal intensity | 1 |
| essv25789687 | copy number gain | SNP array | Probe signal intensity | 3 |
| essv25786683 | copy number loss | SNP array | Probe signal intensity | 1 |
| essv25786640 | copy number loss | SNP array | Probe signal intensity | 1 |
| essv25786803 | copy number loss | SNP array | Probe signal intensity | 1 |
| essv25786742 | copy number loss | SNP array | Probe signal intensity | 1 |
| essv25797136 | copy number loss | SNP array | Probe signal intensity | 1 |
| essv25787805 | copy number gain | SNP array | Probe signal intensity | 3 |
| essv25798006 | copy number loss | SNP array | Probe signal intensity | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv25787932 | Remapped | Perfect | NC_000012.12:g.(?_ 37567966)_(3796580 9_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 37,567,966 | 37,965,809 |
| essv25790393 | Remapped | Perfect | NC_000012.12:g.(?_ 37571120)_(3798724 3_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 37,571,120 | 37,987,243 |
| essv25790733 | Remapped | Perfect | NC_000012.12:g.(?_ 37571120)_(3798724 3_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 37,571,120 | 37,987,243 |
| essv25792763 | Remapped | Perfect | NC_000012.12:g.(?_ 37590729)_(3798724 3_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 37,590,729 | 37,987,243 |
| essv25790427 | Remapped | Perfect | NC_000012.12:g.(?_ 37590729)_(3803820 7_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 37,590,729 | 38,038,207 |
| essv25788300 | Remapped | Perfect | NC_000012.12:g.(?_ 37592279)_(3793384 7_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 37,592,279 | 37,933,847 |
| essv25788172 | Remapped | Perfect | NC_000012.12:g.(?_ 37592279)_(3796580 9_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 37,592,279 | 37,965,809 |
| essv25787124 | Remapped | Perfect | NC_000012.12:g.(?_ 37621503)_(3798724 3_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 37,621,503 | 37,987,243 |
| essv25787227 | Remapped | Perfect | NC_000012.12:g.(?_ 37621503)_(3798724 3_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 37,621,503 | 37,987,243 |
| essv25785711 | Remapped | Perfect | NC_000012.12:g.(?_ 37621503)_(3801688 5_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 37,621,503 | 38,016,885 |
| essv25789687 | Remapped | Perfect | NC_000012.12:g.(?_ 37621503)_(3803820 7_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 37,621,503 | 38,038,207 |
| essv25786683 | Remapped | Perfect | NC_000012.12:g.(?_ 37622149)_(3801688 5_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 37,622,149 | 38,016,885 |
| essv25786640 | Remapped | Perfect | NC_000012.12:g.(?_ 37650242)_(3798724 3_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 37,650,242 | 37,987,243 |
| essv25786803 | Remapped | Perfect | NC_000012.12:g.(?_ 37650242)_(3801688 5_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 37,650,242 | 38,016,885 |
| essv25786742 | Remapped | Perfect | NC_000012.12:g.(?_ 37666202)_(3803820 7_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 37,666,202 | 38,038,207 |
| essv25797136 | Remapped | Perfect | NC_000012.12:g.(?_ 37678971)_(3802233 7_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 37,678,971 | 38,022,337 |
| essv25787805 | Remapped | Perfect | NC_000012.12:g.(?_ 37700536)_(3796580 9_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 37,700,536 | 37,965,809 |
| essv25798006 | Remapped | Perfect | NC_000012.12:g.(?_ 37700536)_(3802233 7_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 37,700,536 | 38,022,337 |
| essv25787932 | Remapped | Perfect | NC_000012.11:g.(?_ 37961768)_(3835961 1_?)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 37,961,768 | 38,359,611 |
| essv25790393 | Remapped | Perfect | NC_000012.11:g.(?_ 37964922)_(3838104 5_?)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 37,964,922 | 38,381,045 |
| essv25790733 | Remapped | Perfect | NC_000012.11:g.(?_ 37964922)_(3838104 5_?)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 37,964,922 | 38,381,045 |
| essv25792763 | Remapped | Perfect | NC_000012.11:g.(?_ 37984531)_(3838104 5_?)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 37,984,531 | 38,381,045 |
| essv25790427 | Remapped | Perfect | NC_000012.11:g.(?_ 37984531)_(3843200 9_?)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 37,984,531 | 38,432,009 |
| essv25788300 | Remapped | Perfect | NC_000012.11:g.(?_ 37986081)_(3832764 9_?)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 37,986,081 | 38,327,649 |
| essv25788172 | Remapped | Perfect | NC_000012.11:g.(?_ 37986081)_(3835961 1_?)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 37,986,081 | 38,359,611 |
| essv25787124 | Remapped | Perfect | NC_000012.11:g.(?_ 38015305)_(3838104 5_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 38,015,305 | 38,381,045 |
| essv25787227 | Remapped | Perfect | NC_000012.11:g.(?_ 38015305)_(3838104 5_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 38,015,305 | 38,381,045 |
| essv25785711 | Remapped | Perfect | NC_000012.11:g.(?_ 38015305)_(3841068 7_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 38,015,305 | 38,410,687 |
| essv25789687 | Remapped | Perfect | NC_000012.11:g.(?_ 38015305)_(3843200 9_?)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 38,015,305 | 38,432,009 |
| essv25786683 | Remapped | Perfect | NC_000012.11:g.(?_ 38015951)_(3841068 7_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 38,015,951 | 38,410,687 |
| essv25786640 | Remapped | Perfect | NC_000012.11:g.(?_ 38044044)_(3838104 5_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 38,044,044 | 38,381,045 |
| essv25786803 | Remapped | Perfect | NC_000012.11:g.(?_ 38044044)_(3841068 7_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 38,044,044 | 38,410,687 |
| essv25786742 | Remapped | Perfect | NC_000012.11:g.(?_ 38060004)_(3843200 9_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 38,060,004 | 38,432,009 |
| essv25797136 | Remapped | Perfect | NC_000012.11:g.(?_ 38072773)_(3841613 9_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 38,072,773 | 38,416,139 |
| essv25787805 | Remapped | Perfect | NC_000012.11:g.(?_ 38094338)_(3835961 1_?)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 38,094,338 | 38,359,611 |
| essv25798006 | Remapped | Perfect | NC_000012.11:g.(?_ 38094338)_(3841613 9_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 38,094,338 | 38,416,139 |
| essv25787932 | Submitted genomic | NC_000012.10:g.(?_ 36248035)_(3664587 8_?)dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 36,248,035 | 36,645,878 | ||
| essv25790393 | Submitted genomic | NC_000012.10:g.(?_ 36251189)_(3666731 2_?)dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 36,251,189 | 36,667,312 | ||
| essv25790733 | Submitted genomic | NC_000012.10:g.(?_ 36251189)_(3666731 2_?)dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 36,251,189 | 36,667,312 | ||
| essv25792763 | Submitted genomic | NC_000012.10:g.(?_ 36270798)_(3666731 2_?)dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 36,270,798 | 36,667,312 | ||
| essv25790427 | Submitted genomic | NC_000012.10:g.(?_ 36270798)_(3671827 6_?)dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 36,270,798 | 36,718,276 | ||
| essv25788300 | Submitted genomic | NC_000012.10:g.(?_ 36272348)_(3661391 6_?)dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 36,272,348 | 36,613,916 | ||
| essv25788172 | Submitted genomic | NC_000012.10:g.(?_ 36272348)_(3664587 8_?)dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 36,272,348 | 36,645,878 | ||
| essv25787124 | Submitted genomic | NC_000012.10:g.(?_ 36301572)_(3666731 2_?)del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 36,301,572 | 36,667,312 | ||
| essv25787227 | Submitted genomic | NC_000012.10:g.(?_ 36301572)_(3666731 2_?)del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 36,301,572 | 36,667,312 | ||
| essv25785711 | Submitted genomic | NC_000012.10:g.(?_ 36301572)_(3669695 4_?)del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 36,301,572 | 36,696,954 | ||
| essv25789687 | Submitted genomic | NC_000012.10:g.(?_ 36301572)_(3671827 6_?)dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 36,301,572 | 36,718,276 | ||
| essv25786683 | Submitted genomic | NC_000012.10:g.(?_ 36302218)_(3669695 4_?)del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 36,302,218 | 36,696,954 | ||
| essv25786640 | Submitted genomic | NC_000012.10:g.(?_ 36330311)_(3666731 2_?)del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 36,330,311 | 36,667,312 | ||
| essv25786803 | Submitted genomic | NC_000012.10:g.(?_ 36330311)_(3669695 4_?)del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 36,330,311 | 36,696,954 | ||
| essv25786742 | Submitted genomic | NC_000012.10:g.(?_ 36346271)_(3671827 6_?)del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 36,346,271 | 36,718,276 | ||
| essv25797136 | Submitted genomic | NC_000012.10:g.(?_ 36359040)_(3670240 6_?)del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 36,359,040 | 36,702,406 | ||
| essv25787805 | Submitted genomic | NC_000012.10:g.(?_ 36380605)_(3664587 8_?)dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 36,380,605 | 36,645,878 | ||
| essv25798006 | Submitted genomic | NC_000012.10:g.(?_ 36380605)_(3670240 6_?)del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 36,380,605 | 36,702,406 |