esv2757090
- Organism: Homo sapiens
- Study:estd1 (Redon et al. 2006)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:18
- Validation:Not tested
- Clinical Assertions: No
- Region Size:171,734
- 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: 1486 SVs from 106 studies. See in: genome view
Overlapping variant regions from other studies: 1486 SVs from 106 studies. See in: genome view
Overlapping variant regions from other studies: 160 SVs from 13 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2757090 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 160,862,270 | 161,034,003 |
| esv2757090 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 161,783,422 | 161,955,155 |
| esv2757090 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000004.9 | Chr4 | 162,141,027 | 162,312,760 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv2703 | copy number gain | NA18944 | SNP array | SNP genotyping analysis | 90 |
| essv5844 | copy number gain | NA18524 | SNP array | SNP genotyping analysis | 87 |
| essv199 | copy number gain | NA18994 | SNP array | SNP genotyping analysis | 79 |
| essv596 | copy number gain | NA18947 | SNP array | SNP genotyping analysis | 62 |
| essv3642 | copy number gain | NA18991 | SNP array | SNP genotyping analysis | 100 |
| essv1676 | copy number gain | NA18992 | SNP array | SNP genotyping analysis | 62 |
| essv1987 | copy number gain | NA18942 | SNP array | SNP genotyping analysis | 74 |
| essv2128 | copy number gain | NA18978 | SNP array | SNP genotyping analysis | 84 |
| essv3492 | copy number gain | NA18999 | SNP array | SNP genotyping analysis | 85 |
| essv4105 | copy number gain | NA18529 | SNP array | SNP genotyping analysis | 111 |
| essv5897 | copy number gain | NA18576 | SNP array | SNP genotyping analysis | 66 |
| essv2739 | copy number gain | NA18965 | SNP array | SNP genotyping analysis | 80 |
| essv6201 | copy number gain | NA18563 | SNP array | SNP genotyping analysis | 139 |
| essv704 | copy number gain | NA18940 | SNP array | SNP genotyping analysis | 84 |
| essv7466 | copy number gain | NA18633 | SNP array | SNP genotyping analysis | 74 |
| essv99 | copy number gain | NA19005 | SNP array | SNP genotyping analysis | 49 |
| essv5081 | copy number gain | NA18570 | SNP array | SNP genotyping analysis | 83 |
| essv7676 | copy number gain | NA18620 | SNP array | SNP genotyping analysis | 114 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv2703 | Remapped | Perfect | NC_000004.12:g.(16 0862270_160943588) _(161003680_161011 307)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 160,862,270 | 160,943,588 | 161,003,680 | 161,011,307 |
| essv5844 | Remapped | Perfect | NC_000004.12:g.(16 0887152_160943588) _(161003680_161025 473)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 160,887,152 | 160,943,588 | 161,003,680 | 161,025,473 |
| essv199 | Remapped | Perfect | NC_000004.12:g.(16 0918307_160943588) _(161002702_161025 473)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 160,918,307 | 160,943,588 | 161,002,702 | 161,025,473 |
| essv596 | Remapped | Perfect | NC_000004.12:g.(16 0918307_160943588) _(161003680_161003 680)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 160,918,307 | 160,943,588 | 161,003,680 | 161,003,680 |
| essv3642 | Remapped | Perfect | NC_000004.12:g.(16 0943588_160950630) _(161000260_161025 473)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 160,943,588 | 160,950,630 | 161,000,260 | 161,025,473 |
| essv1676 | Remapped | Perfect | NC_000004.12:g.(16 0943588_160950630) _(161002702_161025 216)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 160,943,588 | 160,950,630 | 161,002,702 | 161,025,216 |
| essv1987 | Remapped | Perfect | NC_000004.12:g.(16 0943588_160943588) _(161002702_161025 607)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 160,943,588 | 160,943,588 | 161,002,702 | 161,025,607 |
| essv2128 | Remapped | Perfect | NC_000004.12:g.(16 0943588_160943588) _(161002702_161025 216)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 160,943,588 | 160,943,588 | 161,002,702 | 161,025,216 |
| essv3492 | Remapped | Perfect | NC_000004.12:g.(16 0943588_160943588) _(161002702_161025 607)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 160,943,588 | 160,943,588 | 161,002,702 | 161,025,607 |
| essv4105 | Remapped | Perfect | NC_000004.12:g.(16 0943588_160950630) _(161002702_161011 307)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 160,943,588 | 160,950,630 | 161,002,702 | 161,011,307 |
| essv5897 | Remapped | Perfect | NC_000004.12:g.(16 0943588_160943588) _(161002702_161031 742)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 160,943,588 | 160,943,588 | 161,002,702 | 161,031,742 |
| essv2739 | Remapped | Perfect | NC_000004.12:g.(16 0943588_160943588) _(161003680_161025 216)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 160,943,588 | 160,943,588 | 161,003,680 | 161,025,216 |
| essv6201 | Remapped | Perfect | NC_000004.12:g.(16 0943588_160943588) _(161003680_161034 003)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 160,943,588 | 160,943,588 | 161,003,680 | 161,034,003 |
| essv704 | Remapped | Perfect | NC_000004.12:g.(16 0943588_160943588) _(161003680_161011 307)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 160,943,588 | 160,943,588 | 161,003,680 | 161,011,307 |
| essv7466 | Remapped | Perfect | NC_000004.12:g.(16 0943588_160943588) _(161003680_161025 607)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 160,943,588 | 160,943,588 | 161,003,680 | 161,025,607 |
| essv99 | Remapped | Perfect | NC_000004.12:g.(16 0943588_160943588) _(161003680_161031 742)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 160,943,588 | 160,943,588 | 161,003,680 | 161,031,742 |
| essv5081 | Remapped | Perfect | NC_000004.12:g.(16 0943588_160950630) _(161025216_161031 742)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 160,943,588 | 160,950,630 | 161,025,216 | 161,031,742 |
| essv7676 | Remapped | Perfect | NC_000004.12:g.(16 0950630_160952773) _(161011307_161025 473)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 160,950,630 | 160,952,773 | 161,011,307 | 161,025,473 |
| essv2703 | Remapped | Perfect | NC_000004.11:g.(16 1783422_161864740) _(161924832_161932 459)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 161,783,422 | 161,864,740 | 161,924,832 | 161,932,459 |
| essv5844 | Remapped | Perfect | NC_000004.11:g.(16 1808304_161864740) _(161924832_161946 625)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 161,808,304 | 161,864,740 | 161,924,832 | 161,946,625 |
| essv199 | Remapped | Perfect | NC_000004.11:g.(16 1839459_161864740) _(161923854_161946 625)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 161,839,459 | 161,864,740 | 161,923,854 | 161,946,625 |
| essv596 | Remapped | Perfect | NC_000004.11:g.(16 1839459_161864740) _(161924832_161924 832)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 161,839,459 | 161,864,740 | 161,924,832 | 161,924,832 |
| essv3642 | Remapped | Perfect | NC_000004.11:g.(16 1864740_161871782) _(161921412_161946 625)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 161,864,740 | 161,871,782 | 161,921,412 | 161,946,625 |
| essv1676 | Remapped | Perfect | NC_000004.11:g.(16 1864740_161871782) _(161923854_161946 368)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 161,864,740 | 161,871,782 | 161,923,854 | 161,946,368 |
| essv1987 | Remapped | Perfect | NC_000004.11:g.(16 1864740_161864740) _(161923854_161946 759)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 161,864,740 | 161,864,740 | 161,923,854 | 161,946,759 |
| essv2128 | Remapped | Perfect | NC_000004.11:g.(16 1864740_161864740) _(161923854_161946 368)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 161,864,740 | 161,864,740 | 161,923,854 | 161,946,368 |
| essv3492 | Remapped | Perfect | NC_000004.11:g.(16 1864740_161864740) _(161923854_161946 759)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 161,864,740 | 161,864,740 | 161,923,854 | 161,946,759 |
| essv4105 | Remapped | Perfect | NC_000004.11:g.(16 1864740_161871782) _(161923854_161932 459)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 161,864,740 | 161,871,782 | 161,923,854 | 161,932,459 |
| essv5897 | Remapped | Perfect | NC_000004.11:g.(16 1864740_161864740) _(161923854_161952 894)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 161,864,740 | 161,864,740 | 161,923,854 | 161,952,894 |
| essv2739 | Remapped | Perfect | NC_000004.11:g.(16 1864740_161864740) _(161924832_161946 368)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 161,864,740 | 161,864,740 | 161,924,832 | 161,946,368 |
| essv6201 | Remapped | Perfect | NC_000004.11:g.(16 1864740_161864740) _(161924832_161955 155)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 161,864,740 | 161,864,740 | 161,924,832 | 161,955,155 |
| essv704 | Remapped | Perfect | NC_000004.11:g.(16 1864740_161864740) _(161924832_161932 459)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 161,864,740 | 161,864,740 | 161,924,832 | 161,932,459 |
| essv7466 | Remapped | Perfect | NC_000004.11:g.(16 1864740_161864740) _(161924832_161946 759)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 161,864,740 | 161,864,740 | 161,924,832 | 161,946,759 |
| essv99 | Remapped | Perfect | NC_000004.11:g.(16 1864740_161864740) _(161924832_161952 894)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 161,864,740 | 161,864,740 | 161,924,832 | 161,952,894 |
| essv5081 | Remapped | Perfect | NC_000004.11:g.(16 1864740_161871782) _(161946368_161952 894)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 161,864,740 | 161,871,782 | 161,946,368 | 161,952,894 |
| essv7676 | Remapped | Perfect | NC_000004.11:g.(16 1871782_161873925) _(161932459_161946 625)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 161,871,782 | 161,873,925 | 161,932,459 | 161,946,625 |
| essv2703 | Submitted genomic | NC_000004.9:g.(162 141027_162222345)_ (162282437_1622900 64)dup | NCBI35 (hg17) | NC_000004.9 | Chr4 | 162,141,027 | 162,222,345 | 162,282,437 | 162,290,064 | ||
| essv5844 | Submitted genomic | NC_000004.9:g.(162 165909_162222345)_ (162282437_1623042 30)dup | NCBI35 (hg17) | NC_000004.9 | Chr4 | 162,165,909 | 162,222,345 | 162,282,437 | 162,304,230 | ||
| essv199 | Submitted genomic | NC_000004.9:g.(162 197064_162222345)_ (162281459_1623042 30)dup | NCBI35 (hg17) | NC_000004.9 | Chr4 | 162,197,064 | 162,222,345 | 162,281,459 | 162,304,230 | ||
| essv596 | Submitted genomic | NC_000004.9:g.(162 197064_162222345)_ (162282437_1622824 37)dup | NCBI35 (hg17) | NC_000004.9 | Chr4 | 162,197,064 | 162,222,345 | 162,282,437 | 162,282,437 | ||
| essv3642 | Submitted genomic | NC_000004.9:g.(162 222345_162229387)_ (162279017_1623042 30)dup | NCBI35 (hg17) | NC_000004.9 | Chr4 | 162,222,345 | 162,229,387 | 162,279,017 | 162,304,230 | ||
| essv1676 | Submitted genomic | NC_000004.9:g.(162 222345_162229387)_ (162281459_1623039 73)dup | NCBI35 (hg17) | NC_000004.9 | Chr4 | 162,222,345 | 162,229,387 | 162,281,459 | 162,303,973 | ||
| essv1987 | Submitted genomic | NC_000004.9:g.(162 222345_162222345)_ (162281459_1623043 64)dup | NCBI35 (hg17) | NC_000004.9 | Chr4 | 162,222,345 | 162,222,345 | 162,281,459 | 162,304,364 | ||
| essv2128 | Submitted genomic | NC_000004.9:g.(162 222345_162222345)_ (162281459_1623039 73)dup | NCBI35 (hg17) | NC_000004.9 | Chr4 | 162,222,345 | 162,222,345 | 162,281,459 | 162,303,973 | ||
| essv3492 | Submitted genomic | NC_000004.9:g.(162 222345_162222345)_ (162281459_1623043 64)dup | NCBI35 (hg17) | NC_000004.9 | Chr4 | 162,222,345 | 162,222,345 | 162,281,459 | 162,304,364 | ||
| essv4105 | Submitted genomic | NC_000004.9:g.(162 222345_162229387)_ (162281459_1622900 64)dup | NCBI35 (hg17) | NC_000004.9 | Chr4 | 162,222,345 | 162,229,387 | 162,281,459 | 162,290,064 | ||
| essv5897 | Submitted genomic | NC_000004.9:g.(162 222345_162222345)_ (162281459_1623104 99)dup | NCBI35 (hg17) | NC_000004.9 | Chr4 | 162,222,345 | 162,222,345 | 162,281,459 | 162,310,499 | ||
| essv2739 | Submitted genomic | NC_000004.9:g.(162 222345_162222345)_ (162282437_1623039 73)dup | NCBI35 (hg17) | NC_000004.9 | Chr4 | 162,222,345 | 162,222,345 | 162,282,437 | 162,303,973 | ||
| essv6201 | Submitted genomic | NC_000004.9:g.(162 222345_162222345)_ (162282437_1623127 60)dup | NCBI35 (hg17) | NC_000004.9 | Chr4 | 162,222,345 | 162,222,345 | 162,282,437 | 162,312,760 | ||
| essv704 | Submitted genomic | NC_000004.9:g.(162 222345_162222345)_ (162282437_1622900 64)dup | NCBI35 (hg17) | NC_000004.9 | Chr4 | 162,222,345 | 162,222,345 | 162,282,437 | 162,290,064 | ||
| essv7466 | Submitted genomic | NC_000004.9:g.(162 222345_162222345)_ (162282437_1623043 64)dup | NCBI35 (hg17) | NC_000004.9 | Chr4 | 162,222,345 | 162,222,345 | 162,282,437 | 162,304,364 | ||
| essv99 | Submitted genomic | NC_000004.9:g.(162 222345_162222345)_ (162282437_1623104 99)dup | NCBI35 (hg17) | NC_000004.9 | Chr4 | 162,222,345 | 162,222,345 | 162,282,437 | 162,310,499 | ||
| essv5081 | Submitted genomic | NC_000004.9:g.(162 222345_162229387)_ (162303973_1623104 99)dup | NCBI35 (hg17) | NC_000004.9 | Chr4 | 162,222,345 | 162,229,387 | 162,303,973 | 162,310,499 | ||
| essv7676 | Submitted genomic | NC_000004.9:g.(162 229387_162231530)_ (162290064_1623042 30)dup | NCBI35 (hg17) | NC_000004.9 | Chr4 | 162,229,387 | 162,231,530 | 162,290,064 | 162,304,230 |