esv2756997
- Organism: Homo sapiens
- Study:estd1 (Redon et al. 2006)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:20
- Validation:Not tested
- Clinical Assertions: No
- Region Size:48,421
- 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: 814 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 814 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 113 SVs from 9 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2756997 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 65,190,441 | 65,238,861 |
| esv2756997 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 65,176,116 | 65,224,536 |
| esv2756997 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000003.9 | Chr3 | 65,151,156 | 65,199,576 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv23635 | copy number loss | NA07055 | SNP array | SNP genotyping analysis | 51 |
| essv19472 | copy number loss | NA12750 | SNP array | SNP genotyping analysis | 85 |
| essv2722 | copy number loss | NA18944 | SNP array | SNP genotyping analysis | 90 |
| essv3607 | copy number loss | NA18969 | SNP array | SNP genotyping analysis | 96 |
| essv18013 | copy number loss | NA12878 | SNP array | SNP genotyping analysis | 68 |
| essv24114 | copy number loss | NA07048 | SNP array | SNP genotyping analysis | 157 |
| essv17685 | copy number loss | NA10835 | SNP array | SNP genotyping analysis | 70 |
| essv17859 | copy number loss | NA10857 | SNP array | SNP genotyping analysis | 107 |
| essv18527 | copy number loss | NA12763 | SNP array | SNP genotyping analysis | 96 |
| essv18693 | copy number loss | NA12056 | SNP array | SNP genotyping analysis | 51 |
| essv18794 | copy number loss | NA12891 | SNP array | SNP genotyping analysis | 51 |
| essv18798 | copy number loss | NA12248 | SNP array | SNP genotyping analysis | 109 |
| essv19374 | copy number loss | NA07019 | SNP array | SNP genotyping analysis | 69 |
| essv21645 | copy number loss | NA12761 | SNP array | SNP genotyping analysis | 69 |
| essv23103 | copy number loss | NA12043 | SNP array | SNP genotyping analysis | 76 |
| essv2564 | copy number loss | NA18974 | SNP array | SNP genotyping analysis | 79 |
| essv4098 | copy number loss | NA18529 | SNP array | SNP genotyping analysis | 111 |
| essv4217 | copy number loss | NA18609 | SNP array | SNP genotyping analysis | 94 |
| essv7515 | copy number gain | NA18532 | SNP array | SNP genotyping analysis | 101 |
| essv24183 | copy number loss | NA07056 | SNP array | SNP genotyping analysis | 99 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv23635 | Remapped | Perfect | NC_000003.12:g.(65 190441_65203969)_( 65226604_65238715) del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 65,190,441 | 65,203,969 | 65,226,604 | 65,238,715 |
| essv19472 | Remapped | Perfect | NC_000003.12:g.(65 200563_65203969)_( 65226604_65238715) del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 65,200,563 | 65,203,969 | 65,226,604 | 65,238,715 |
| essv2722 | Remapped | Perfect | NC_000003.12:g.(65 200563_65203969)_( 65226604_65232993) del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 65,200,563 | 65,203,969 | 65,226,604 | 65,232,993 |
| essv3607 | Remapped | Perfect | NC_000003.12:g.(65 202778_65207571)_( 65225903_65234770) del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 65,202,778 | 65,207,571 | 65,225,903 | 65,234,770 |
| essv18013 | Remapped | Perfect | NC_000003.12:g.(65 203969_65203969)_( 65225903_65226604) del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 65,203,969 | 65,203,969 | 65,225,903 | 65,226,604 |
| essv24114 | Remapped | Perfect | NC_000003.12:g.(65 203969_65207571)_( 65225903_65234770) del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 65,203,969 | 65,207,571 | 65,225,903 | 65,234,770 |
| essv17685 | Remapped | Perfect | NC_000003.12:g.(65 203969_65203969)_( 65226604_65238861) del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 65,203,969 | 65,203,969 | 65,226,604 | 65,238,861 |
| essv17859 | Remapped | Perfect | NC_000003.12:g.(65 203969_65207571)_( 65226604_65232993) del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 65,203,969 | 65,207,571 | 65,226,604 | 65,232,993 |
| essv18527 | Remapped | Perfect | NC_000003.12:g.(65 203969_65203969)_( 65226604_65238861) del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 65,203,969 | 65,203,969 | 65,226,604 | 65,238,861 |
| essv18693 | Remapped | Perfect | NC_000003.12:g.(65 203969_65207571)_( 65226604_65238715) del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 65,203,969 | 65,207,571 | 65,226,604 | 65,238,715 |
| essv18794 | Remapped | Perfect | NC_000003.12:g.(65 203969_65203969)_( 65226604_65226604) del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 65,203,969 | 65,203,969 | 65,226,604 | 65,226,604 |
| essv18798 | Remapped | Perfect | NC_000003.12:g.(65 203969_65207571)_( 65226604_65234770) del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 65,203,969 | 65,207,571 | 65,226,604 | 65,234,770 |
| essv19374 | Remapped | Perfect | NC_000003.12:g.(65 203969_65203969)_( 65226604_65232993) del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 65,203,969 | 65,203,969 | 65,226,604 | 65,232,993 |
| essv21645 | Remapped | Perfect | NC_000003.12:g.(65 203969_65203969)_( 65226604_65226604) del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 65,203,969 | 65,203,969 | 65,226,604 | 65,226,604 |
| essv23103 | Remapped | Perfect | NC_000003.12:g.(65 203969_65207571)_( 65226604_65234770) del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 65,203,969 | 65,207,571 | 65,226,604 | 65,234,770 |
| essv2564 | Remapped | Perfect | NC_000003.12:g.(65 203969_65207571)_( 65226604_65234770) del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 65,203,969 | 65,207,571 | 65,226,604 | 65,234,770 |
| essv4098 | Remapped | Perfect | NC_000003.12:g.(65 203969_65203969)_( 65226604_65232993) del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 65,203,969 | 65,203,969 | 65,226,604 | 65,232,993 |
| essv4217 | Remapped | Perfect | NC_000003.12:g.(65 203969_65207571)_( 65226604_65238715) del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 65,203,969 | 65,207,571 | 65,226,604 | 65,238,715 |
| essv7515 | Remapped | Perfect | NC_000003.12:g.(65 203969_65203969)_( 65226604_65232993) dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 65,203,969 | 65,203,969 | 65,226,604 | 65,232,993 |
| essv24183 | Remapped | Perfect | NC_000003.12:g.(65 207571_65207571)_( 65226604_65232993) del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 65,207,571 | 65,207,571 | 65,226,604 | 65,232,993 |
| essv23635 | Remapped | Perfect | NC_000003.11:g.(65 176116_65189644)_( 65212279_65224390) del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 65,176,116 | 65,189,644 | 65,212,279 | 65,224,390 |
| essv19472 | Remapped | Perfect | NC_000003.11:g.(65 186238_65189644)_( 65212279_65224390) del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 65,186,238 | 65,189,644 | 65,212,279 | 65,224,390 |
| essv2722 | Remapped | Perfect | NC_000003.11:g.(65 186238_65189644)_( 65212279_65218668) del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 65,186,238 | 65,189,644 | 65,212,279 | 65,218,668 |
| essv3607 | Remapped | Perfect | NC_000003.11:g.(65 188453_65193246)_( 65211578_65220445) del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 65,188,453 | 65,193,246 | 65,211,578 | 65,220,445 |
| essv18013 | Remapped | Perfect | NC_000003.11:g.(65 189644_65189644)_( 65211578_65212279) del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 65,189,644 | 65,189,644 | 65,211,578 | 65,212,279 |
| essv24114 | Remapped | Perfect | NC_000003.11:g.(65 189644_65193246)_( 65211578_65220445) del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 65,189,644 | 65,193,246 | 65,211,578 | 65,220,445 |
| essv17685 | Remapped | Perfect | NC_000003.11:g.(65 189644_65189644)_( 65212279_65224536) del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 65,189,644 | 65,189,644 | 65,212,279 | 65,224,536 |
| essv17859 | Remapped | Perfect | NC_000003.11:g.(65 189644_65193246)_( 65212279_65218668) del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 65,189,644 | 65,193,246 | 65,212,279 | 65,218,668 |
| essv18527 | Remapped | Perfect | NC_000003.11:g.(65 189644_65189644)_( 65212279_65224536) del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 65,189,644 | 65,189,644 | 65,212,279 | 65,224,536 |
| essv18693 | Remapped | Perfect | NC_000003.11:g.(65 189644_65193246)_( 65212279_65224390) del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 65,189,644 | 65,193,246 | 65,212,279 | 65,224,390 |
| essv18794 | Remapped | Perfect | NC_000003.11:g.(65 189644_65189644)_( 65212279_65212279) del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 65,189,644 | 65,189,644 | 65,212,279 | 65,212,279 |
| essv18798 | Remapped | Perfect | NC_000003.11:g.(65 189644_65193246)_( 65212279_65220445) del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 65,189,644 | 65,193,246 | 65,212,279 | 65,220,445 |
| essv19374 | Remapped | Perfect | NC_000003.11:g.(65 189644_65189644)_( 65212279_65218668) del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 65,189,644 | 65,189,644 | 65,212,279 | 65,218,668 |
| essv21645 | Remapped | Perfect | NC_000003.11:g.(65 189644_65189644)_( 65212279_65212279) del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 65,189,644 | 65,189,644 | 65,212,279 | 65,212,279 |
| essv23103 | Remapped | Perfect | NC_000003.11:g.(65 189644_65193246)_( 65212279_65220445) del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 65,189,644 | 65,193,246 | 65,212,279 | 65,220,445 |
| essv2564 | Remapped | Perfect | NC_000003.11:g.(65 189644_65193246)_( 65212279_65220445) del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 65,189,644 | 65,193,246 | 65,212,279 | 65,220,445 |
| essv4098 | Remapped | Perfect | NC_000003.11:g.(65 189644_65189644)_( 65212279_65218668) del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 65,189,644 | 65,189,644 | 65,212,279 | 65,218,668 |
| essv4217 | Remapped | Perfect | NC_000003.11:g.(65 189644_65193246)_( 65212279_65224390) del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 65,189,644 | 65,193,246 | 65,212,279 | 65,224,390 |
| essv7515 | Remapped | Perfect | NC_000003.11:g.(65 189644_65189644)_( 65212279_65218668) dup | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 65,189,644 | 65,189,644 | 65,212,279 | 65,218,668 |
| essv24183 | Remapped | Perfect | NC_000003.11:g.(65 193246_65193246)_( 65212279_65218668) del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 65,193,246 | 65,193,246 | 65,212,279 | 65,218,668 |
| essv23635 | Submitted genomic | NC_000003.9:g.(651 51156_65164684)_(6 5187319_65199430)d el | NCBI35 (hg17) | NC_000003.9 | Chr3 | 65,151,156 | 65,164,684 | 65,187,319 | 65,199,430 | ||
| essv19472 | Submitted genomic | NC_000003.9:g.(651 61278_65164684)_(6 5187319_65199430)d el | NCBI35 (hg17) | NC_000003.9 | Chr3 | 65,161,278 | 65,164,684 | 65,187,319 | 65,199,430 | ||
| essv2722 | Submitted genomic | NC_000003.9:g.(651 61278_65164684)_(6 5187319_65193708)d el | NCBI35 (hg17) | NC_000003.9 | Chr3 | 65,161,278 | 65,164,684 | 65,187,319 | 65,193,708 | ||
| essv3607 | Submitted genomic | NC_000003.9:g.(651 63493_65168286)_(6 5186618_65195485)d el | NCBI35 (hg17) | NC_000003.9 | Chr3 | 65,163,493 | 65,168,286 | 65,186,618 | 65,195,485 | ||
| essv18013 | Submitted genomic | NC_000003.9:g.(651 64684_65164684)_(6 5186618_65187319)d el | NCBI35 (hg17) | NC_000003.9 | Chr3 | 65,164,684 | 65,164,684 | 65,186,618 | 65,187,319 | ||
| essv24114 | Submitted genomic | NC_000003.9:g.(651 64684_65168286)_(6 5186618_65195485)d el | NCBI35 (hg17) | NC_000003.9 | Chr3 | 65,164,684 | 65,168,286 | 65,186,618 | 65,195,485 | ||
| essv17685 | Submitted genomic | NC_000003.9:g.(651 64684_65164684)_(6 5187319_65199576)d el | NCBI35 (hg17) | NC_000003.9 | Chr3 | 65,164,684 | 65,164,684 | 65,187,319 | 65,199,576 | ||
| essv17859 | Submitted genomic | NC_000003.9:g.(651 64684_65168286)_(6 5187319_65193708)d el | NCBI35 (hg17) | NC_000003.9 | Chr3 | 65,164,684 | 65,168,286 | 65,187,319 | 65,193,708 | ||
| essv18527 | Submitted genomic | NC_000003.9:g.(651 64684_65164684)_(6 5187319_65199576)d el | NCBI35 (hg17) | NC_000003.9 | Chr3 | 65,164,684 | 65,164,684 | 65,187,319 | 65,199,576 | ||
| essv18693 | Submitted genomic | NC_000003.9:g.(651 64684_65168286)_(6 5187319_65199430)d el | NCBI35 (hg17) | NC_000003.9 | Chr3 | 65,164,684 | 65,168,286 | 65,187,319 | 65,199,430 | ||
| essv18794 | Submitted genomic | NC_000003.9:g.(651 64684_65164684)_(6 5187319_65187319)d el | NCBI35 (hg17) | NC_000003.9 | Chr3 | 65,164,684 | 65,164,684 | 65,187,319 | 65,187,319 | ||
| essv18798 | Submitted genomic | NC_000003.9:g.(651 64684_65168286)_(6 5187319_65195485)d el | NCBI35 (hg17) | NC_000003.9 | Chr3 | 65,164,684 | 65,168,286 | 65,187,319 | 65,195,485 | ||
| essv19374 | Submitted genomic | NC_000003.9:g.(651 64684_65164684)_(6 5187319_65193708)d el | NCBI35 (hg17) | NC_000003.9 | Chr3 | 65,164,684 | 65,164,684 | 65,187,319 | 65,193,708 | ||
| essv21645 | Submitted genomic | NC_000003.9:g.(651 64684_65164684)_(6 5187319_65187319)d el | NCBI35 (hg17) | NC_000003.9 | Chr3 | 65,164,684 | 65,164,684 | 65,187,319 | 65,187,319 | ||
| essv23103 | Submitted genomic | NC_000003.9:g.(651 64684_65168286)_(6 5187319_65195485)d el | NCBI35 (hg17) | NC_000003.9 | Chr3 | 65,164,684 | 65,168,286 | 65,187,319 | 65,195,485 | ||
| essv2564 | Submitted genomic | NC_000003.9:g.(651 64684_65168286)_(6 5187319_65195485)d el | NCBI35 (hg17) | NC_000003.9 | Chr3 | 65,164,684 | 65,168,286 | 65,187,319 | 65,195,485 | ||
| essv4098 | Submitted genomic | NC_000003.9:g.(651 64684_65164684)_(6 5187319_65193708)d el | NCBI35 (hg17) | NC_000003.9 | Chr3 | 65,164,684 | 65,164,684 | 65,187,319 | 65,193,708 | ||
| essv4217 | Submitted genomic | NC_000003.9:g.(651 64684_65168286)_(6 5187319_65199430)d el | NCBI35 (hg17) | NC_000003.9 | Chr3 | 65,164,684 | 65,168,286 | 65,187,319 | 65,199,430 | ||
| essv7515 | Submitted genomic | NC_000003.9:g.(651 64684_65164684)_(6 5187319_65193708)d up | NCBI35 (hg17) | NC_000003.9 | Chr3 | 65,164,684 | 65,164,684 | 65,187,319 | 65,193,708 | ||
| essv24183 | Submitted genomic | NC_000003.9:g.(651 68286_65168286)_(6 5187319_65193708)d el | NCBI35 (hg17) | NC_000003.9 | Chr3 | 65,168,286 | 65,168,286 | 65,187,319 | 65,193,708 |