esv2760576
- Organism: Homo sapiens
- Study:estd203 (Vogler et al. 2010)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:26
- Validation:Not tested
- Clinical Assertions: No
- Region Size:887,581
- Publication(s):Vogler et al. 2010
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: 2774 SVs from 102 studies. See in: genome view
Overlapping variant regions from other studies: 2774 SVs from 102 studies. See in: genome view
Overlapping variant regions from other studies: 666 SVs from 30 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2760576 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 130,634,172 | 131,521,752 |
| esv2760576 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 131,391,745 | 132,279,325 |
| esv2760576 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 131,108,215 | 131,995,795 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7008072 | copy number loss | RW_0323 | SNP array | SNP genotyping analysis | 42 |
| essv7008073 | copy number loss | RW_0311 | SNP array | SNP genotyping analysis | 38 |
| essv7008074 | copy number gain | RW_0506 | SNP array | SNP genotyping analysis | 43 |
| essv7008075 | copy number gain | RW_0062 | SNP array | SNP genotyping analysis | 60 |
| essv7008076 | copy number gain | RW_0619 | SNP array | SNP genotyping analysis | 37 |
| essv7008079 | copy number loss | RW_0029 | SNP array | SNP genotyping analysis | 75 |
| essv7008080 | copy number gain | RW_0646 | SNP array | SNP genotyping analysis | 47 |
| essv7008081 | copy number gain | RW_0188 | SNP array | SNP genotyping analysis | 33 |
| essv7008082 | copy number loss | RW_0065 | SNP array | SNP genotyping analysis | 48 |
| essv7008083 | copy number loss | RW_0173 | SNP array | SNP genotyping analysis | 52 |
| essv7008084 | copy number loss | RW_0178 | SNP array | SNP genotyping analysis | 71 |
| essv7008085 | copy number loss | RW_0195 | SNP array | SNP genotyping analysis | 67 |
| essv7008086 | copy number loss | RW_0211 | SNP array | SNP genotyping analysis | 62 |
| essv7008087 | copy number loss | RW_0212 | SNP array | SNP genotyping analysis | 57 |
| essv7008088 | copy number loss | RW_0216 | SNP array | SNP genotyping analysis | 76 |
| essv7008090 | copy number loss | RW_0257 | SNP array | SNP genotyping analysis | 61 |
| essv7008091 | copy number loss | RW_0262 | SNP array | SNP genotyping analysis | 49 |
| essv7008092 | copy number loss | RW_0268 | SNP array | SNP genotyping analysis | 64 |
| essv7008093 | copy number loss | RW_0281 | SNP array | SNP genotyping analysis | 58 |
| essv7008094 | copy number loss | RW_0311 | SNP array | SNP genotyping analysis | 38 |
| essv7008095 | copy number loss | RW_0606 | SNP array | SNP genotyping analysis | 52 |
| essv7008096 | copy number loss | RW_0616 | SNP array | SNP genotyping analysis | 46 |
| essv7008097 | copy number loss | RW_0622 | SNP array | SNP genotyping analysis | 49 |
| essv7008098 | copy number loss | RW_0023 | SNP array | SNP genotyping analysis | 71 |
| essv7008099 | copy number loss | RW_0279 | SNP array | SNP genotyping analysis | 62 |
| essv7008101 | copy number loss | RW_0129 | SNP array | SNP genotyping analysis | 68 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7008072 | Remapped | Perfect | NC_000002.12:g.(?_ 130634172)_(131398 300_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 130,634,172 | 131,398,300 |
| essv7008073 | Remapped | Perfect | NC_000002.12:g.(?_ 130871792)_(130886 251_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 130,871,792 | 130,886,251 |
| essv7008074 | Remapped | Perfect | NC_000002.12:g.(?_ 131188740)_(131326 276_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 131,188,740 | 131,326,276 |
| essv7008075 | Remapped | Perfect | NC_000002.12:g.(?_ 131226967)_(131521 752_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 131,226,967 | 131,521,752 |
| essv7008076 | Remapped | Perfect | NC_000002.12:g.(?_ 131271344)_(131326 276_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 131,271,344 | 131,326,276 |
| essv7008079 | Remapped | Perfect | NC_000002.12:g.(?_ 131290845)_(131315 200_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 131,290,845 | 131,315,200 |
| essv7008080 | Remapped | Perfect | NC_000002.12:g.(?_ 131290845)_(131509 183_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 131,290,845 | 131,509,183 |
| essv7008081 | Remapped | Perfect | NC_000002.12:g.(?_ 131290845)_(131516 504_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 131,290,845 | 131,516,504 |
| essv7008082 | Remapped | Perfect | NC_000002.12:g.(?_ 131335459)_(131338 866_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 131,335,459 | 131,338,866 |
| essv7008083 | Remapped | Perfect | NC_000002.12:g.(?_ 131335459)_(131338 866_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 131,335,459 | 131,338,866 |
| essv7008084 | Remapped | Perfect | NC_000002.12:g.(?_ 131335459)_(131338 866_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 131,335,459 | 131,338,866 |
| essv7008085 | Remapped | Perfect | NC_000002.12:g.(?_ 131335459)_(131338 866_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 131,335,459 | 131,338,866 |
| essv7008086 | Remapped | Perfect | NC_000002.12:g.(?_ 131335459)_(131338 866_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 131,335,459 | 131,338,866 |
| essv7008087 | Remapped | Perfect | NC_000002.12:g.(?_ 131335459)_(131338 866_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 131,335,459 | 131,338,866 |
| essv7008088 | Remapped | Perfect | NC_000002.12:g.(?_ 131335459)_(131338 866_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 131,335,459 | 131,338,866 |
| essv7008090 | Remapped | Perfect | NC_000002.12:g.(?_ 131335459)_(131338 866_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 131,335,459 | 131,338,866 |
| essv7008091 | Remapped | Perfect | NC_000002.12:g.(?_ 131335459)_(131338 866_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 131,335,459 | 131,338,866 |
| essv7008092 | Remapped | Perfect | NC_000002.12:g.(?_ 131335459)_(131338 866_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 131,335,459 | 131,338,866 |
| essv7008093 | Remapped | Perfect | NC_000002.12:g.(?_ 131335459)_(131338 866_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 131,335,459 | 131,338,866 |
| essv7008094 | Remapped | Perfect | NC_000002.12:g.(?_ 131335459)_(131338 866_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 131,335,459 | 131,338,866 |
| essv7008095 | Remapped | Perfect | NC_000002.12:g.(?_ 131335459)_(131339 746_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 131,335,459 | 131,339,746 |
| essv7008096 | Remapped | Perfect | NC_000002.12:g.(?_ 131335459)_(131339 746_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 131,335,459 | 131,339,746 |
| essv7008097 | Remapped | Perfect | NC_000002.12:g.(?_ 131335459)_(131339 746_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 131,335,459 | 131,339,746 |
| essv7008098 | Remapped | Perfect | NC_000002.12:g.(?_ 131335459)_(131341 735_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 131,335,459 | 131,341,735 |
| essv7008099 | Remapped | Perfect | NC_000002.12:g.(?_ 131335459)_(131341 735_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 131,335,459 | 131,341,735 |
| essv7008101 | Remapped | Perfect | NC_000002.12:g.(?_ 131337174)_(131338 866_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 131,337,174 | 131,338,866 |
| essv7008072 | Remapped | Perfect | NC_000002.11:g.(?_ 131391745)_(132155 873_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 131,391,745 | 132,155,873 |
| essv7008073 | Remapped | Perfect | NC_000002.11:g.(?_ 131629365)_(131643 824_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 131,629,365 | 131,643,824 |
| essv7008074 | Remapped | Perfect | NC_000002.11:g.(?_ 131946313)_(132083 849_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 131,946,313 | 132,083,849 |
| essv7008075 | Remapped | Perfect | NC_000002.11:g.(?_ 131984540)_(132279 325_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 131,984,540 | 132,279,325 |
| essv7008076 | Remapped | Perfect | NC_000002.11:g.(?_ 132028917)_(132083 849_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 132,028,917 | 132,083,849 |
| essv7008079 | Remapped | Perfect | NC_000002.11:g.(?_ 132048418)_(132072 773_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 132,048,418 | 132,072,773 |
| essv7008080 | Remapped | Perfect | NC_000002.11:g.(?_ 132048418)_(132266 756_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 132,048,418 | 132,266,756 |
| essv7008081 | Remapped | Perfect | NC_000002.11:g.(?_ 132048418)_(132274 077_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 132,048,418 | 132,274,077 |
| essv7008082 | Remapped | Perfect | NC_000002.11:g.(?_ 132093032)_(132096 439_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 132,093,032 | 132,096,439 |
| essv7008083 | Remapped | Perfect | NC_000002.11:g.(?_ 132093032)_(132096 439_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 132,093,032 | 132,096,439 |
| essv7008084 | Remapped | Perfect | NC_000002.11:g.(?_ 132093032)_(132096 439_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 132,093,032 | 132,096,439 |
| essv7008085 | Remapped | Perfect | NC_000002.11:g.(?_ 132093032)_(132096 439_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 132,093,032 | 132,096,439 |
| essv7008086 | Remapped | Perfect | NC_000002.11:g.(?_ 132093032)_(132096 439_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 132,093,032 | 132,096,439 |
| essv7008087 | Remapped | Perfect | NC_000002.11:g.(?_ 132093032)_(132096 439_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 132,093,032 | 132,096,439 |
| essv7008088 | Remapped | Perfect | NC_000002.11:g.(?_ 132093032)_(132096 439_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 132,093,032 | 132,096,439 |
| essv7008090 | Remapped | Perfect | NC_000002.11:g.(?_ 132093032)_(132096 439_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 132,093,032 | 132,096,439 |
| essv7008091 | Remapped | Perfect | NC_000002.11:g.(?_ 132093032)_(132096 439_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 132,093,032 | 132,096,439 |
| essv7008092 | Remapped | Perfect | NC_000002.11:g.(?_ 132093032)_(132096 439_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 132,093,032 | 132,096,439 |
| essv7008093 | Remapped | Perfect | NC_000002.11:g.(?_ 132093032)_(132096 439_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 132,093,032 | 132,096,439 |
| essv7008094 | Remapped | Perfect | NC_000002.11:g.(?_ 132093032)_(132096 439_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 132,093,032 | 132,096,439 |
| essv7008095 | Remapped | Perfect | NC_000002.11:g.(?_ 132093032)_(132097 319_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 132,093,032 | 132,097,319 |
| essv7008096 | Remapped | Perfect | NC_000002.11:g.(?_ 132093032)_(132097 319_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 132,093,032 | 132,097,319 |
| essv7008097 | Remapped | Perfect | NC_000002.11:g.(?_ 132093032)_(132097 319_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 132,093,032 | 132,097,319 |
| essv7008098 | Remapped | Perfect | NC_000002.11:g.(?_ 132093032)_(132099 308_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 132,093,032 | 132,099,308 |
| essv7008099 | Remapped | Perfect | NC_000002.11:g.(?_ 132093032)_(132099 308_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 132,093,032 | 132,099,308 |
| essv7008101 | Remapped | Perfect | NC_000002.11:g.(?_ 132094747)_(132096 439_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 132,094,747 | 132,096,439 |
| essv7008072 | Submitted genomic | NC_000002.10:g.(?_ 131108215)_(131872 343_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 131,108,215 | 131,872,343 | ||
| essv7008073 | Submitted genomic | NC_000002.10:g.(?_ 131345835)_(131360 294_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 131,345,835 | 131,360,294 | ||
| essv7008074 | Submitted genomic | NC_000002.10:g.(?_ 131662783)_(131800 319_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 131,662,783 | 131,800,319 | ||
| essv7008075 | Submitted genomic | NC_000002.10:g.(?_ 131701010)_(131995 795_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 131,701,010 | 131,995,795 | ||
| essv7008076 | Submitted genomic | NC_000002.10:g.(?_ 131745387)_(131800 319_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 131,745,387 | 131,800,319 | ||
| essv7008079 | Submitted genomic | NC_000002.10:g.(?_ 131764888)_(131789 243_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 131,764,888 | 131,789,243 | ||
| essv7008080 | Submitted genomic | NC_000002.10:g.(?_ 131764888)_(131983 226_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 131,764,888 | 131,983,226 | ||
| essv7008081 | Submitted genomic | NC_000002.10:g.(?_ 131764888)_(131990 547_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 131,764,888 | 131,990,547 | ||
| essv7008082 | Submitted genomic | NC_000002.10:g.(?_ 131809502)_(131812 909_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 131,809,502 | 131,812,909 | ||
| essv7008083 | Submitted genomic | NC_000002.10:g.(?_ 131809502)_(131812 909_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 131,809,502 | 131,812,909 | ||
| essv7008084 | Submitted genomic | NC_000002.10:g.(?_ 131809502)_(131812 909_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 131,809,502 | 131,812,909 | ||
| essv7008085 | Submitted genomic | NC_000002.10:g.(?_ 131809502)_(131812 909_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 131,809,502 | 131,812,909 | ||
| essv7008086 | Submitted genomic | NC_000002.10:g.(?_ 131809502)_(131812 909_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 131,809,502 | 131,812,909 | ||
| essv7008087 | Submitted genomic | NC_000002.10:g.(?_ 131809502)_(131812 909_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 131,809,502 | 131,812,909 | ||
| essv7008088 | Submitted genomic | NC_000002.10:g.(?_ 131809502)_(131812 909_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 131,809,502 | 131,812,909 | ||
| essv7008090 | Submitted genomic | NC_000002.10:g.(?_ 131809502)_(131812 909_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 131,809,502 | 131,812,909 | ||
| essv7008091 | Submitted genomic | NC_000002.10:g.(?_ 131809502)_(131812 909_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 131,809,502 | 131,812,909 | ||
| essv7008092 | Submitted genomic | NC_000002.10:g.(?_ 131809502)_(131812 909_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 131,809,502 | 131,812,909 | ||
| essv7008093 | Submitted genomic | NC_000002.10:g.(?_ 131809502)_(131812 909_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 131,809,502 | 131,812,909 | ||
| essv7008094 | Submitted genomic | NC_000002.10:g.(?_ 131809502)_(131812 909_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 131,809,502 | 131,812,909 | ||
| essv7008095 | Submitted genomic | NC_000002.10:g.(?_ 131809502)_(131813 789_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 131,809,502 | 131,813,789 | ||
| essv7008096 | Submitted genomic | NC_000002.10:g.(?_ 131809502)_(131813 789_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 131,809,502 | 131,813,789 | ||
| essv7008097 | Submitted genomic | NC_000002.10:g.(?_ 131809502)_(131813 789_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 131,809,502 | 131,813,789 | ||
| essv7008098 | Submitted genomic | NC_000002.10:g.(?_ 131809502)_(131815 778_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 131,809,502 | 131,815,778 | ||
| essv7008099 | Submitted genomic | NC_000002.10:g.(?_ 131809502)_(131815 778_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 131,809,502 | 131,815,778 | ||
| essv7008101 | Submitted genomic | NC_000002.10:g.(?_ 131811217)_(131812 909_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 131,811,217 | 131,812,909 |